PRINCIPLES OF

5
UNIT-VII CHAPTER
Genetics and
Evolution INHERITANCE
AND VARIATION

Syllabus
¾ Heredity and variation : Mendelian inheritance; deviations from Mendelism - incomplete dominance, co-
dominance, multiple alleles and inheritance of blood groups, pleiotropy; elementary idea of polygenic inheritance;
chromosomal theory of inheritance; chromosomes and genes; Sex determination - in humans, birds and honey bee;

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linkage and crossing over; sex linked inheritance - haemophilia, colour blindness; Mendelian disorders in humans -
thalassemia; chromosomal disorders in humans; Down’s syndrome, Turner’s and Klinefelter’s syndromes.

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Chapter Analysis

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List of Topics te D
2016
OD D
2017
OD
2018
D/OD
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Mendel’s Law z Difference between gene and 1Q
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of Inheritance allele (1 M)
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Inheritance of z Test cross 1Q 1Q 1Q

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one gene z Polygenic inheritance (3 M) (3 M) (1 M)

z Pleiotropy 1Q
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z Mendelian pattern of inheritance (5 M)

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Inheritance of z Law of Independent Inheritance 1Q 1Q

two gene z Morgan’s dihybrid cross (5 M) (5 M)
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Sex z Sex determination in honey bees, 1Q 1Q 1Q

determination birds and humans (1 M) (1 M) (3 M)
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z Fate of autosomes during gamete

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formation
Genetic z Pattern of inheritance of 1Q 1Q
disorders autosomal recessive trait (3 M) (3 M)
z Haemophilia, Thalassemia
z Down’s syndrome

z On the basis of above analysis, it can be concluded that this is also an important chapter from the
exam point of view. A major 5 marks long question is always asked from this chapter. The important
topics for long question answers are Mendel’s three laws, Morgan’s dihybrid crosses, Polygenic,
pleiotropy and Mendelian pattern of inheritance. Other important topics from exam point of view
are Sex determination in human, birds and honey bees, test cross, and genetic disorders (Hemophilia,
Thalassemia, Down’s syndrome).

TOPIC-1
Mendelian Laws of Inheritance and Chromosomal
Theory of Inheritance
Revision Notes
Mendel's Laws of Inheritance :
¾ Hybridization Experiments on Garden Peas (Pisum sativum)
86 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

  ‡ Mendel selected 7 pairs of true breeding pea varieties.

S. No. Characters Dominant Recessive

1. Height of the stem Tall (T) Dwarf (t)
2. Colour of the flower Violet/Red (R) White (r)
3. Position of the flower Axial (A) Terminal (a)
4. Shape of pod Full/Inflated (I) Constricted (i)
5. Colour of pod Green (G) Yellow (g)
6. Shape of seed Round (R) Wrinkled (r)
7. Colour of seed/cotyledons Yellow (Y) Green (y)

Inheritance of One Gene

¾ Monohybrid Cross : TOPIC - 1
Mendelian Laws of Inheritance and
‡ A cross involving two plants differing in one pair of contrasting Chromosomal Theory of Inheritance
characters. .... P. 85

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‡ e.g. Mendel crossed tall and dwarf pea plants to study the TOPIC - 2
inheritance of one gene. Sex Determination and Chromosomal

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¾ Steps in Making a Cross in Pea : Disorder .... P. 114

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‡ Selection of two pea plants with contrasting characters.
Removal of anthers (emasculation) of one plant to avoid self pollination. This is female parent.
‡
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Collection of pollen grains from the other plant (male parent) and transfer to female parent (pollination).
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‡ Collection of seeds and production of offspring.
Mendel made similar observations for other pairs of traits and proposed that factors were inherited from
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‡
parent to offspring. Now they are called as genes.
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‡ The F1 generation (Tt) when self pollinated, produces gametes T and t in equal proportion.
‡ Mendel self-pollinated the F2 plants.
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‡ He found that dwarf F2 plants continued to generate dwarf plants in F3 & F4.
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‡ He concluded that genotype of the dwarfs was homozygous- tt.

 ¾ Monohybrid Phenotypic Ratio : 3 Tall : 1 Dwarf = 3 : 1
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¾ Monohybrid Genotypic Ratio :

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Homozygous tall (TT) : 1, Heterozygous tall (Tt) : 2, Homozygous dwarf (tt) : 1= 1 : 2 : 1

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¾ Back cross and Test cross

‡ Back cross : Crossing of F1 hybrid with either of its parent.
‡ Test cross : Crossing of an F1 hybrid with its recessive parent (Test cross ratio=1:1). It is used to find out the
unknown genotype. Mendel conducted test cross to determine the F2 genotype.
Mendel’s Principles or Laws of Inheritance
1. Principle of Dominance
‡ Characters are controlled by discrete units called factors.
‡ Factors occur in pairs.
‡ In a dissimilar pair of factors or contrasting alleles i.e., in heterozygous condition, only one member of the
pair expresses its effect in the hybrid and is called as dominant while the manifestation of the other is masked
and is called as recessive.
2. Law of Segregation
This law states that allelic pairs separate or segregate during gamete formation and randomly unite at fertilization,
thus homozygous parent produces similar gametes. Heterozygous parent produces two kinds of gametes, each
having one allele in equal proportion.
The Concept of Dominance
‡ In heterozygotes, there are dominant and recessive alleles.
‡ The normal (unmodified or functioning) allele of a gene produces a normal enzyme that is needed for the
transformation of a substrate.
PRINCIPLES OF INHERITANCE AND VARIATION [ 87
‡ The modified allele is responsible for the production of
(i) The normal/less efficient enzyme or
(ii) A non-functional enzyme or
(iii) No enzyme at all
‡ In the first case : The modified allele will produce the same phenotype like unmodified allele. It becomes
dominant.
‡ In 2nd and 3rd cases : The phenotype is dependent only on the functioning of the unmodified allele. Here,
the modified allele becomes recessive.
Non-Mendelian Inheritance
(a) Incomplete Dominance
‡ It is an inheritance in which heterozygous offspring shows intermediate character between two parental
characteristics. e.g. Flower colour in snapdragon (dog flower or Antirrhinum sp.) and Mirabilis jalapa (4’O clock
plant).
‡ Here, phenotypic and genotypic ratios are same.
‡ Phenotypic ratio = 1 Red : 2 Pink : 1 White

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‡ Genotypic ratio = 1 (RR) : 2 (Rr) : 1(rr)
‡ This means that R was not completely dominant over r.

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(b) Co-dominance
‡ It is the inheritance in which both alleles of a gene are expressed equally and independently in a hybrid i.e.

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both the alleles are dominant, e.g. ABO blood grouping in humans.
‡ ABO blood groups are controlled by the gene I.
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‡ The gene (I) has three alleles IA, IB and i. However a person can have any two of these three alleles. IA and IB
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both are dominant alleles while i is a recessive allele.
‡ The alleles IA and IB produce antigen A and antigen B respectively on the RBC surface while allele i doesn’t
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produce any antigen.

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‡ When IA and IB are present together they both express their own types of surface antigen A and B. This is due
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to co-dominance.
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(c) Multiple Allelism

‡ Here more than two alleles govern the same character.
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‡ Since in an individual only two alleles are present, multiple alleles can be found only when population
studies are made e.g. ABO blood grouping (3 alleles : IA, IB & i). Skin colour and height of humans are also
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examples of multiple alleles.

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(d) Pleiotropy
Pleiotropy is the phenomenon in which one gene controls many traits. For example, the gene in pea plants
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‡
that controls the round and wrinkled texture of seeds also influences the phenotypic expression of starch
grain size.
‡ So, if starch grain size is considered as the phenotype, then from this angle, the alleles show incomplete
dominance.
‡ Therefore, dominance is not an autonomous feature of a gene or the product that it has information for. It
depends as much on the gene product and the production of a particular phenotype.
Inheritance of Two Genes
¾ Dihybrid Cross
‡ A cross between two parents differing in two pairs of contrasting characters.
‡ Mendel made some dihybrid crosses e.g. Cross between pea plant with round shaped and yellow coloured
seeds (RRYY) and wrinkled shaped and green coloured seeds (rryy).
‡ On observing the F2, Mendel found that the yellow and green colour segregated in a 3:1 ratio.
‡ Round and wrinkled seed shape also segregated in a 3:1 ratio.
Thus, the segregation of one pair of contrasting characters (Round and wrinkled shape) is independent of
the segregation of another pair of contrasting character (yellow and green) colour and also that some new
combinations of character appear in F2 generation as the alleles get randomly rearranged in the offsprings at
the time of fertilization.
‡ Dihybrid genotypic ratio: 1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1
RRYY =1; RRYy =2; RrYY = 2; RrYy = 4; RRyy = 1; Rryy = 2; rrYY = 1; rrYy = 2; rryy = 1
88 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

‡ Dihybrid Phenotypic ratio :

Round yellow 9 : Round green 3 : Wrinkled yellow 3 : Wrinkled green 1, i.e. 9 : 3 : 3 : 1
The ratio of 9 : 3 : 3 : 1 can be derived as a combination series of 3 yellow : 1 green, with 3 round : 1 wrinkled.
i.e. (3 : 1) (3 : 1) = 9 : 3 : 3 : 1
3. Mendel's Law of Independent Assortment :
‡ It states that when more than one pair of characters are involved in a cross, the segregation of one pair of
contrasting characters is independent of the segregation of other pair of contrasting characters and also that
new recombination of characters alongwith the parental type also appear in F2 generation.
¾ Non-recognition of Mendel's work
‡ Mendel’s work remained unrecognized till 1900 because,
(a) Communication was not easy.
(b) Non recognition of Mendel as a scientist.
(c) His mathematical approach was new and unacceptable.
(d) He used statistical calculations which were beyond the comprehension of the biologists of his time.
(e) Chromosomes, mitosis and meiosis were not known in Mendel's time.
(f) The concept of genes (factors) as a stable and discrete units was not accepted. (Mendel could not explain

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the continuous variations seen in nature).
(g) Mendel could not provide any physical proof for the existence of factors.

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‡ In 1900, de Vries of Holland, Correns of Germany & Von Tschermak of Austria independently rediscovered
Mendel’s results and proclaimed his conclusions as the Mendel's Laws of inheritance.

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¾ Chromosomal Theory (1902)
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‡ The chromosomal Theory was proposed independently by Walter Sutton and Theodor Boveri in 1902.
‡ Walter Sutton & Theodor Boveri proposed that the pairing and separation of a pair of chromosomes during
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meiosis lead to segregation of pair of factors.
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‡ Sutton united chromosomal segregation with Mendelian principles and called it as Chromosomal Theory of
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Inheritance.
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‡ It states that—
(a) Chromosomes are vehicles of heredity i.e., they are transmitted from parents to offspring.
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(b) Two identical chromosomes form a homologous pair. Genes are present in a linear fashion on chromosomes.
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(c) They segregate at the time of gamete formation.

(d) Independent pairs segregate independently of each other.
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(e) Chromosomes are mutable.

(f) Sex chromosomes determine sex of an individual.
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Parallelism between genes (Mendelian factors) & Chromosomes :

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‡ Mendelian factors as well as chromosomes are transferred from generation to generation.

‡ The chromosomes occurs in homologous pairs. The genes also occurs in pairs (allele pairs).
‡ Both chromosomes and genes segregate at the time of gamete formation in such a way that gametes receive
only one chromosome & similarly one allele of each pair.
‡ Different pairs of chromosomes segregate independently of each other. Similarly one pair of alleles segregate
independently of another pair.
‡ Fusion of two (male & female) gametes brings about the diploid chromosome number as well as the allelic
pairs in the offsprings.
‡ Thomas Hunt Morgan proved Chromosomal Theory of Inheritance using fruit flies (Drosophila melanogaster).
‡ He took fruit flies as the suitable material because
(a) It breeds very quickly.
(b) Short generation time (life cycle : 12-14 days).
(c) Breeding can be done throughout the year.
(d) Hundreds of progenies are produced per mating.
(e) They can grow on simple synthetic medium.
(f) Male and female flies are easily distinguishable.
¾ Linkage and Recombination
‡ Recombination : It is the generation of non-parental gene combinations.
‡ Linkage : Physical association of two or more genes on a chromosome, Which show tendency to inherit
together. They do not show independent assortment.
PRINCIPLES OF INHERITANCE AND VARIATION [ 89
‡ Morgan et. al crossed yellow body and white eyed females with wild type brown body and red eyed males
and inter-crossed F1 offsprings. He found that the two genes did not segregate independently, resulted
in deviation from normal dihybrid ratio 9 : 3 : 3 : 1 in F2 generation because the appearance of parental
combinations were higher than the non-parental and new recombinations.
‡ Morgan further carried out several dihybrid test crosses in Drosophila to study sex-linked genes.
Cross A : Double recessive Yellow-bodied, white-eyed females YW/YW X Hybrid Brown-bodied, red-eyed
males Y'W'/YW (wild type).
Cross B : Double recessive White-eyed, miniature winged (Wm/Wm) X Hybrid Red eyed, large winged (W'm/
Wm) (wild type).
‡ Morgan in the above crosses found that
(a) The two genes did not segregate independently of each other and the F2 ratio deviated from the
9 : 3 : 3 : 1 ratio.
(b) Genes were located on the X chromosome.
(c) When two genes were situated on the same chromosome,the proportion of parental gene combinations
was much higher than the non-parental type. This is due to linkage.
(d) Genes for white and yellow were very tightly linked and showed only 1.3% new recombination while
white and miniature wings showed 37.2% recombination (loosely linked).
(e) Tightly linked genes show low recombination.

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(f) Loosely linked genes show high recombination.
Strength of linkage is inversely proportional to the distance between two linked genes. Thus, the linkage
between y & w alleles is stronger than the linkage between w & m alleles.

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‡ Linkage groups : All the genes present together on a single chromosome make up a linkage group. The
total number of linkage groups in an organism is equal to its haploid number of chromosomes or number of

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homologous pairs in diploid organisms.
‡ Alfred Sturtevant used the recombination frequency between gene pairs as a measure of the distance between

‡
genes and ‘mapped’ their position on the chromosome. te
Recombination frequency or the cross over value (COV) can be calculated by following formula.
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Number of recombinants
COV = u 100
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Total number of offsprings

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Genetic maps are used as a starting point in the sequencing of genomes as was done in Human Genome
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Project.
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Very Short Answer Type Questions

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(1 mark each)
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Q. 1. How does a test cross help to determine the

genotype of an individual ? Ans. IA, IB and i are the alleles of the gene I.
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[CBSE Marking Scheme, 2016] 1

A [Foreign Set-I, 2016]
An

Ans. Individual of unknown genotype crossed with Q. 3. Give an example of a plant where the F2 progeny
recessive parent. of a monohybrid cross has same genotypic and
All dominant in progeny—Homozygosity, phenotypic ratios.
dominant to recessive ratio 1 : 1 in progeny— R [Delhi Set-II & III, Comptt. 2016]
Heterozygosity. ½+½ Ans. Snapdragon/Antirrhinum majus/ Four O’ clock
[CBSE Marking Scheme, 2016] plants/Mirabilis jalapa. 1
Detailed Answer : [CBSE Marking Scheme, 2016]
Test-cross helps to determine the unknown
genotype by crossing it with the recessive parent. Commonly Made Error
If in the progeny all are dominant type then the z Students should write the scientific names properly.
individual is homozygous and if in the progeny
dominant to recessive ratio is 1 : 1, the individual is Q. 4. Give an example of a polygenic trait in humans.
heterozygous. R [Delhi Set-II Comptt. 2016]

Commonly Made Error Ans. Skin colour/height in humans (any other suitable
example)
z Students often get confused between 'test cross' and
[CBSE Marking Scheme, 2016] 1
'back cross'. Many of them mention only parent and
offspring but they forget to write 'cross' of F1 hybrid Q. 5. In a dihybrid cross carried out by T. H. Morgan
with recessive parent. in Drosophila the F2 ratio deviated from that of
Q. 2. Write technical term used in human ABO blood Mendel’s dihybrid F2 ratio. Give a reason.
groups for IA, IB and i R [Delhi Set-I, Comptt. 2016] A [Outside Delhi Set-I, II & III, Comptt. 2016]
90 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Ans. Genes were linked/genes were on the same Q. 6. If two genes are located far apart from each
chromosome and closely associated 1 other on a chromosome, what will be its effect
on the frequency of recombination ?
[CBSE Marking Scheme, 2016]
A [CBSE SQP, 2016-17]
Detailed Answer :
The F2 ratio deviated from that of Mendel’s dihybrid Ans. Frequency of recombination will be higher.
F2 ratio (9 : 3 : 3 : 1) in an experiment performed [CBSE Marking Scheme, 2016] ½ + ½
by Morgan on Drosophila because of Linkage. Detailed Answer :
The genes were linked as they were located on Frequency of recombinations will be higher because
the same chromosome and closely associated. of greater chances of crossing over and also because
Therefore, they failed to segregate at the time of of the lesser strength of linkage as the strength of
gamete formation resulting in greater number of
the linkage is inversely proportional to the distance
parental combinations and lesser number of new
between the genes located on the chromosome.
recombinations in F2 generation, thereby deviating
Q. 7. List any two characters of Pea plants used by
from the normal dihybrid Mendelian ratio.
Mendel in his experiments other than height of the
Answering Tips plant and the colour of the seed.
z Carefully distinguish and learn the differences A [Delhi Comptt. 2017 Set - II, III]
between the dihybrid cross done by Mendel and Ans. Flower colour / Flower position / Pod shape / pod

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Morgan. colour / Seed shape (Any two) ½+½
[CBSE Marking Scheme, 2017]

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Q. 8. Name the type of cross that would help to find the genotype of a plant bearing violet flowers.

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U [Outside Delhi - 2017, Set–I, II, III]
Ans. Crossing of an F1 hybrid with it’s recessive plant is called test cross. It is used to find out the unknown genotype.

OR
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fi ci
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Sh
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[Topper's Answer, 2017]

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Answering Tip chromosomes. e.g. if a gene controls height then

allele is which gives either tallness or dwarfness. 1
An

z Practice examples of test cross, back cross,

monohybrid and dihybrid cross using Punette Commonly Made Error
Square.
z Students often get confused between the technical
Q. 9. State a difference between a gene and an allele. terms like gene, allele etc.
U [KVS, Delhi Set-I, 2016] Q. 10. A geneticist interested in studying variations and
Ans. Gene : Contains information that is required to patterns of inheritance in living beings prefers to
express a particular trait // unit of inheritance // choose organisms for experiments with shorter life
segment of DNA called cistron // sequence of DNA cycle. Provide a reason. A [Delhi Set-I, III, 2015]
coding for tRNA / rRNA / polypeptide / enzyme.
Ans. Many generations can be obtained/variations can
Allele : Genes which code for a pair of contrasting
be exhibited/selected faster. 1
traits / different forms of the same gene / individual
gene in a particular gene pair (for same character). [CBSE Marking Scheme, 2015]
[CBSE Marking Scheme, 2016] 1 Detailed Answer:
Detailed Answer : A geneticist choose organism with a short life cycle
because the organism will produce the offspring
Gene is a unit of inheritance, specific segment
quickly in a short period of time. These offsprings
of DNA or a specific sequence of DNA coding
can be studied by the geneticist and can also be
for t-RNA/r-RNA, polypeptide or enzyme, that
further mated to produce more generation of
is transferred from the parent to the offspring. It
offsprings.
controls the expression of a character.
Q. 11. Mention any two contrasting traits with respect to
Allele is an alternative form or forms of a single seeds in pea plant that were studied by Mendel.
gene that lie on the same locus of homologous
U [Outside Delhi Set-I, 2014]
PRINCIPLES OF INHERITANCE AND VARIATION [ 91
Ans. Round/Wrinkled, Yellow/Green. 1 Commonly Made Error
[CBSE Marking Scheme, 2014] z Students often get confused between technical
Detailed Answer : terms like dominant, recessive, phenotype and
genotype.
Colour of seeds : Dominant - Yellow (YY), Recessive -
Green (yy)
Answering Tip
Shape of seeds : Dominant - Round (RR), Recessive
- Wrinkled. (rr) 1 z Carefully understand the technical terms used
in genetics like dominant, recessive, genotype,
Q. 12. What are true breeding lines' that are used to study
phenotype etc.
inheritance pattern of traits in plants ?
Q. 17. Write the percentage of the pea plants
R [Delhi Set-I, 2014]
that would be homozygous recessive in F2
Ans. Self pollination continuous for several generations generation when tall F1 heterozygous pea
/ homozygous. ½+½ plants are selfed.
[CBSE Marking Scheme, 2014] E & A [Delhi Set-I, Comptt. 2012]
Detailed Answer : Ans. 25% homozygous recessive pea plants will be
obtained in F2 generation when tall F1 heterozygous
True breeding lines for a trait are those plants that

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have been generated through repeated continuous pea plants are selfed as follows :
self-pollination and have become homozygous
for a particular trait. They show stability in the

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inheritance of trait for several future generation. 1

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Q. 13. Name the stage of cell division where segregation
of an independent pair of chromosomes occurs.
R [Delhi Set-III, 2014] te
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Ans. Anaphase-1 of Meiosis - 1. 1
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[CBSE Marking Scheme, 2014]

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Q. 14. How many types of phenotypes would you

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expect in F2 generation in a monohybrid

cross ? U [Outside Delhi, Comptt. 2014]
1
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Ans. Two types in the ratio of 3 : 1. 1 Answering Tip

z Practise a number of examples for Monohybrid
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Q. 15. A garden pea plant produced axial white flowers.

Another of the same species produced terminal cross.
violet flowers. Identify the dominant traits. Q. 18. Write the percentage of the pea plants that would
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A [Delhi Set-I, 2012] be heterozygous tall in F2 generation when tall

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heterozygous F1 pea plants are selfed.

Ans. Axial, violet flower. ½ +½
An

A [Delhi Set-II, Comptt. 2012]

[CBSE Marking Scheme, 2012]
Ans. 50% heterozygous tall pea plants would be
Detailed Answer : obtained in F2 generation when tall heterozygous
In garden pea plant bearing axial & white flowers, pea plants are selfed. 1
axial position of the flower is a dominant trait Q. 19. In a dihybrid cross, when would the proportion of
while white flower is a recessive trait, whereas in parental gene combinations be much higher than
plants having terminal violet flowers, the terminal non-parental types, as experimentally shown by
position of the flower is a recessive trait while violet Morgan and his group ?
colour of the flower is a dominant trait. A [Delhi Set-III, 2012]
Answering Tip Ans. When the genes are linked i.e., when genes of
dihybrid cross are closely situated on the same
z Use charts to learn all the contrasting traits studied
chromosome, the proportion of parental gene
by Mendel in his pea plant experiments. Have a
combinations will be much higher than non-
clear understanding of dominant and recessive
parental types. 1
trait.
Q. 20. Mention two contrasting flower-related
Q. 16. A garden pea plant (A) produced inflated yellow traits studied by Mendel in his pea plant
pod, and another plant (B) of the same species experiments.
produced constricted green pods. Identify the
R [Outside Delhi Comptt. 2011]
dominant traits. A [Delhi Set-I, 2012]
Ans. Contrasting flower-related traits :
Ans. Inflated, green pods. ½+½ (i) Flower colour : violet/white or red/white.
[CBSE Marking Scheme, 2012] (ii) Flower position : Axial/Terminal. ½+½
92 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Q. 21. What is the phenotype of the following ? Q. 23. Write the percentage of F2 homozygous &
(i) IAi & (ii) ii R [Outside Delhi Set-I, 2012] heterozygous populations in a typical monohybrid
Ans. (i) Blood group A (Heterozygous) because the allele cross. E & A [Foreign 2010]
IA is dominant over allele i. Ans. 50% homozygous and 50% heterozygous. Out of
(ii) Blood group O (Homozygous condition)— 50% homozygous population 25% is homozygous
because both alleles ii are recessive. 1 dominant and 25% homozygous recessive. 1
Q. 22. Name the respective pattern of inheritance where Q. 24. AaBb was crossed with aabb. What would be the
F1 phenotype. phenotypic ratio of the progeny ? Mention the
(i) does not resemble either of the two parents term used to denote this kind of cross ?
and is in between the two. U [CBSE, SQP, 2010]
(ii) resemble only one of the parents.
Ans. Phenotypic ratio would be 1:1:1:1. It is test cross.
R [Outside Delhi Set-II, 2012] ½+½
Ans. (i) Incomplete dominance [CBSE Marking Scheme, 2010]
(ii) Dominance. ½+½=1 Q 25. Mention the type of allele that expresses itself
Answering Tip only in homozygous state in an organism.
U [CBSE Foreign Set, 2011]
z Understand and learn all Non-Mendelian
Ans. Recessive allele.

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inheritance in simple words, giving importance to 1
operative words. [CBSE Marking Scheme, 2010]

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Short Answer Type Questions-I

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(2 marks each)

Q.1. State the Mendelian principle which can be te The plasma membrane of red blood cells has sugar
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derived from a dihybrid cross and not from polymers that protrude out from its surface and the
monohybrid cross. kind of sugar is regulated by the gene 'I' of ABO
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blood group. The alleles IA and IB produce A and B

R [CBSE, SQP, 2018]
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types of sugar, while i does not produce any sugar.

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Ans. From the dihybrid cross, law of independent 2

assortment can be derived which states that
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Q. 3. Write the scientific name of the fruit-fly. Why

when two pairs of traits are combined in a
did Morgan prefer to work with fruit-flies for
hybrid, segregation of one pair of characters is
Sh

independent of the other pair of characters. 1 + 1 his experiments ? State any three reasons.
[CBSE Marking Scheme, 2018] R [Delhi Set-I, II, III, 2014]
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Q. 2. How does the gene I control ABO blood groups Ans. Drosophila melanogaster ½
in humans ? Write the effect the gene has on the Grown in simple synthetic medium, complete
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structure of red blood cells. the life cycle in two weeks / short life cycle, single
An

U [Delhi Set-I, II, 2014, 2011] mating produce more progeny, dimorphism,
many heritable variations / easy to handle.
Ans. (i) Gene I has three different alleles IA, IB, i. ½ (Any three) 1½
(ii) IA produces A type of sugar / Antigen A A [CBSE Marking Scheme, 2014]
group IB produces B type of sugar / Antigen A B Detailed Answer :
group ½ Morgan preferred to work with fruit flies because
(iii) i - No sugar/Antigen – O group. ½ of the following reasons:
(iv) Structure – sugar polymers protrude from the (i) It can be grown in simple synthetic medium.
surface of plasma membrane of RBCs. ½ (ii) It can complete its life cycle within two weeks
i.e., it has short life cycle.
[CBSE Marking Scheme, 2014] (iii) Single mating produce more progenies.
Detailed Answer : (iv) It shows dimorphism and many heritable variations.
(v) It is easy to handle. 2
In humans, the ABO blood groups are controlled by
Q. 4. Linkage or crossing-over of genes are alternatives
a gene called I. It has three alleles, namely IA, IB and
of each other. Justify with the help of an example.
i. A person possesses any two of the three alleles. IA
A [Delhi Set-III, 2014]
and IB are dominant over allele i. But IA and IB are co-
dominant as they express themselves equally and Ans. In Drosophila, a yellow bodied white eyed
independently, when present together. These three female was crossed with brown bodied red eyed
male, F1 progeny produced and intercrossed.
alleles yield six different combinations which give
The F2 phenotypic ratio of Drosophila deviated
four type of blood groups. The allelic pair IA IA or IA significantly from Mendel's 9 : 3 : 3 : 1, the genes
i yield blood group A, IB IB or IBi the blood group B, for eye colour & body colour are closely located on
IA IB is blood group AB, and ii is blood group O.
PRINCIPLES OF INHERITANCE AND VARIATION [ 93
the ‘X’ chromosome showing linkage & therefore Ans. Effect of single gene on multiple phenotypic
inherited together, recombinants were formed expressions. 1
due to crossing over but at low percentage. e.g. size of the starch grains produced and shape
½×4=2 of the seeds in pea plant are controlled by a
[CBSE Marking Scheme, 2014] single gene // Phenylketonuria characterised by
mental retardation and reduction in hair and skin
Detailed Answer :
pigmentation. 1
Linkage is the tendency of certain genes staying
[CBSE Marking Scheme, 2014]
together during inheritance through generations
without any change or separation. Detailed Answer :
This is due to their location on the same The ability of a gene to have multiple phenotypic
chromosomes. The F2 generation of Drosophila effects because it influences more than one trait
deviated from the Mendel's 9 : 3 : 3 : 1 ratio or a number of characters simultaneously is
when eye colour was considered. Morgan found called pleiotropism and such genes are known as
that this was due to the fact that eye colour in pleiotropic genes e.g. in man a gene producing
Drosophila is a sex-linked character and its gene is the disease phenylketoneuria also produces a
located on X-chromosome. He also observed that number of abnormal phenotypic traits such as short
eye colour and body colour are closely located stature, mental retardation, widely spaced incisors,

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on X-chromosome and hence show linkage. The pigmented patches on skin etc. Another such
linked characters are generally inherited together. example is the size of starch grains produced and
Linkage and crossing over are alternatives of each shape of the seeds in pea plant are controlled by a

gr
other as genes tend to remain together when single pleiotropic gene. In Drosophila the gene for
they are located close to each other on the same vestigial wings also affects structure of reproductive

le
chromosome. Crossing over between genes takes organs and the bristles on the wings.
place only if they are located away from each other.
Commonly Made Error
te
Q. 7. Study the figures given below and answer the
question.
al
z Students write incorrect explanation.
fi ci

Answering Tip
of

z Understand the concept of Linkage and crossing

over thoroughly.
a_

Q. 5. In Snapdragon, a cross between true breeding red

Sh

flower (RR) plants and true breeding white flower

(rr) plants showed a progeny of plants with all
pink flowers.
et

(i) The appearance of pink flowers is not known as

ik

blending. Why ?
(ii) What is the phenomenon known as ?
An

A [Delhi Set-III, 2014]

Ans. (i) R (dominant allele red colour) is not
completely dominant over r (recessive allele
white colour) / r maintains its originality and
reappear in F2 generation. 1
(ii) Incomplete dominance. 1 Identify in which of the crosses the strength of
linkage between the genes is higher. Give reasons
[CBSE Marking Scheme, 2014] in support of your answer.
Detailed Answer : E & A [Delhi Set-I, II, III, 2014]
(i) The appearance of pink flowers in snapdragon
in F1 generation is not due to blending of genes Ans. Cross A, because they are tightly linked / due
Rr which are although together in hybrid, to close physical association / they are closely
because the parental characters i.e. red and located.
white flowers appear again in F2 generation [CBSE Marking Scheme, 2014] 1 + 1= 2
without any change. Detailed Answer :
(ii) Neither of the two alleles are completely Strength of linkage between genes is higher in cross
dominant over each other therefore the A than that of cross B because the two genes yw are
phenomenon is called as incomplete dominance.
located closely on the same chromosome. Whereas
Q. 6. Explain pleiotropy with the help of an example. in case of cross B the genes w and m are located
U [Delhi Set-I, II, 2014] far apart on the same chromosome. Therefore, in
the latter cross the chances of recombination are
94 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

higher for crossing over because lesser the distance

between genes greater the strength of linkage.
Q. 8. A cross was carried out between two pea plants
showing the contrasting traits of height of the
plant. The result of the cross showed 50% of
parental characters.
(i) Work out the cross with the help of a Punnett square.
(ii) Name the type of the cross carried out.
A [Delhi Set-I, 2011]
2
Ans. (i) Tt × tt. 1 Q. 11. Differentiate between multiple allelism and
pleiotropy with the help of an example each.
U [Delhi Set-I, Comptt. 2013]
Ans. Multiple alleles : More than two alternate forms of
a gene present on the same locus of a homologous
pair of chromosomes in a population are called
(ii) Test cross. [CBSE Marking Scheme, 2011] 1 multiple alleles. They control the single trait. For

am
example, ABO blood group in humans.
Answering Tip Pleiotropic genes : The gene having a multiple
phenotypic effect because of its ability to control

gr
z Practise a number of examples for test cross.
the expression of a number of characters is called
Q. 9. With the help of one example, explain the pleiotropic gene. For example, skin pigmentation

le
phenomena of co-dominance and multiple and phenylketonuria. 1+1=2
allelism in human population.
R [Delhi Set-II, 2011] te
Commonly Made Error
Students often get confused between multiple
al
z
Ans. ABO blood group in human being is an example alleles, polygenic inheritance and pleiotropic genes.
ci

of multiple allelism.
Three alleles for the gene I i.e. IA, IB, i.
fi

Answering Tip
When IA and IB are present together the blood
of

z Carefully learn the explanation of these terms with

group is AB.
the help of examples.
a_

Both A and B are expressed and is called

co-dominance. Q. 12. In a cross between two tall pea plants, some of the
Sh

[CBSE Marking Scheme, 2011] 2 offsprings produced were dwarf. Show with the
help of the Punnett Square how this is possible.
Detailed Answer :
et

ABO blood group in human population is an A [Delhi Set-I, II, III, 2013]
ik

example of multiple allelism and co-dominance.

Ans. In a cross between two tall pea plants, some of
There are three alleles of gene I, i.e., IA, IB and i. thus
An

the offsprings produced were dwarf. It indicates

exhibiting multiple allelism. Out of these three alleles
that parent pea plants were heterozygous for
any two alleles may occur in human being, one
tallness (Tt) i.e., they contain a recessive gene (t) for
alleles is contributed from each parent. The alleles
IA and IB are dominant over allele i and produce A dwarfness from each of the parent plant.
and B phenotypes respectively. But however when
alleles IA and IB are present together both of them
express equally and independently producing
AB phenotype. This is a phenomenon called
co-dominance.
Q. 10. A cross between a red flower-bearing plant and
a white flower-bearing plant of Antirrhinum
produced all plants having pink flowers. Work out
a cross to explain how this is possible.
A [Outside Delhi Set-I, II, 2013]
Ans. A cross between a red flower bearing plant and a
white flower bearing plant of Antirrhinum produced 25% plants were dwarf. Phenotypic ratio – Tall :
all plants having pink flowers. This type of cross Dwarf :: 3 : 1 Genotypic ratio – 1 : 2 : 1
shows that red flower colour is not completely
dominant over white colour flowers i.e., it is a case Punnett square : Punnett square is a graphic
of incomplete dominance. Cross to explain how this representation of the probabilities of all the
is possible : possible genotypes and phenotypes of offsprings
in a cross. 2
PRINCIPLES OF INHERITANCE AND VARIATION [ 95
Q. 13. List all three different allelic forms of gene I in Phenotypic ratio = Tall : dwarf
humans. Explain different phenotypic expressions 3 : 1
controlled by these three forms. Genotypic ratio = TT : Tt : tt
R [Delhi Set III. 2012] 1 : 2: 1
Ans. The three different forms of gene I are IA, IB and i. Two third of tall progenies are heterozygous
ABO blood grouping is controlled by these three because gene for tallness (T) is dominant and
alleles, hence it is an example of multiple allelism. expresses itself in heterozygous condition.
Each person possesses any two of the three I gene A Punnet square is used to understand a typical
alleles. IA and IB are completely dominant over monohybrid cross between tall and dwarf plants.
allele (i) while IA and IB are co-dominant because
2
both of them express themselves equally and
independently when present together. As there Q. 15. ABO blood groups is a good example of co-
are three alleles of gene I there would be following dominance. Justify.
six types of allelic combinations of genotypes U [Outside Delhi Comptt. 2017 Set – I, II, III]
resulting in four phenotypic expressions as Ans. (i) ABO blood group in humans is contributed by
follows : gene 'I' that has 3 alleles 'IA' 'IB' and 'i.'
(ii) Because human beings are diploid and each

am
Blood group phenotype Genotype
person has two of the three alleles.
(i) A I I ,I i
A A A
(iii) IA and IB produce two different types of sugar
B IBIB, IBi

gr
(ii) while allele i does not produce sugar on the
(iii) AB IAIB plasma membrane of RBC.

le
(iv) O ii 2 (iv) When IA and IB present they produce their own

Q. 14. Tallness of pea plants is a dominant trait, while

dwarfness is the alternate recessive trait. When a
te type of sugar-this is called co-dominance.
½ + ½ + ½ +½
al
pure-line tall is crossed with pure-line dwarf, what Q. 16. Explain co-dominance with the help of one
ci

fraction of tall plants in F2 shall be heterozygous ? example.

fi

Give reasons. R [Foreign Set – II, III – 2017, (NCERT)]

of

A [Delhi Comptt. 2011]

Ans. When the dominant alleles of the same gene which
a_

Ans. Pure line tall is crossed with pure line dwarf. are contributed by both parents are expressed
(called co-dominance) // F1 generation resembles
both the parents :
Sh

In human blood group :

Parents IA IA IB IB
et

Gametes I A
IB
ik

F1 – I I
A B
An

OR
In human red blood cells, alleles IA and IB of gene
I are both dominant, when IA & IB are present
together in an individual both are expressed as IA
IB, (AB blood group).
½×4=2
[CBSE Marking Scheme, 2017]

Answering Tip
z Practice cross with the help of different characteristic
features in three stages:
(a) Parents
(b) F1 generation
(c) F2 generation

Short Answer Type Questions-II (3 marks each)

Q. 1. True-breeding pea plants showing contrasting (ii) Work out the cross up to F2 generation.
character for flower position were cross-bred. (iii) Compute the relative fraction of various genotypes
(i) Mention the position of flowers in F1 generation. in the F2 generation ? A [SQP, 2016-17]
96 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Ans. (i) Axial position — Due to Principle of Dominance Commonly Made Error
(ii)
AA × aa Parental generation  Many students fail to explain the law correctly. They
(Axial) (Terminal) get confused with the three laws. Many of them
A a Gametes write all the three laws as they did not understand
Aa (Axial) F1 Generation the questions.

Aa × Aa Selfing Answering Tip

 Understand and state Mendel’s laws in simple
A a A a Gametes words, giving importance to operative words.
Q. 3. Work out the monohybrid cross up to F1 by taking
a suitable example so as to show the following
AA Aa Aa aa F2 generation phenotypes.
(iii) Phenotypic ratio—Axial : Terminal :: 3 : 1 (i) F1 represents only one of the parents
Genotypic ratio—1 : 2 : 1 (ii) F1 with both the parental characteristic
Homozygous axial (AA) = 1/4  A [Outside Delhi Set-I, II, III Comptt. 2016]
Heterozygous axial (Aa) = ½ Ans. (i) Tall × Dwarf
Homozygous terminal (aa) = 1/4 3 Parent pea plant ---- TT tt ½

am
Answering Tip
Stress on the difference between Monohybrid and

gr

Dihybrid cross, F1 and F2 generation, phenotypic

le
and genotypic ratio.
Q. 2. Explain the laws that Mendel derived from his
monohybrid crosses. te
al
 U [Delhi Set. II. Comptt. 2016]
ci

 ½ × 3 = 1½
Ans. Law of Dominance, states that factors that control (ii) In Humans—Inheritance of blood groups.
ffi

characters occur in pairs and in dissimilar pair

Parent: A-Blood group B-Blood group.
one factor dominates (expresses itself) whereas
_o

the other recessive factor does not express in the
presence of the dominant one.
ha

Law of Segregation, states that during gamete

formation, the factors or alleles of a pair segregate/
tS

separate (from each other) and one gamete 100% with blood group AB. ½×3=1½
receives only one of the factors. 1½ + 1½
ke

 [CBSE Marking Scheme, 2016]

Q. 4. What is a test cross ? How can it decipher the heterozygosity of a plant ? R [Outside Delhi Set-I, 2016]
i
An

Ans. Test cross : A cross to analyse whether genotypes of dominant individual is homozygous or heterozygous.
On crossing with a recessive parent, if 50% of progeny have dominant trait and 50% have recessive trait then
the plant is said to be heterozygous. [CBSE Marking Scheme, 2016] 2 + 1 = 3
Detailed Answer :
Test cross is a cross between an organisms with unknown genotype and a recessive parent. It is used to determine
whether the genotype of the individual with a dominant trait is homozygous or heterozygous.

Test cross to know homozygous or heterozygous nature of dominant trait

PRINCIPLES OF INHERITANCE AND VARIATION [ 97
If the progenies produced by a test cross show 50% dominant trait and 50% recessive trait, then the unknown
individual is heterozygous for the trait. Thus on basis of this ratio 50% : 50% or 1 : 1 the heterozygosity of the
plant can be deciphered. On the other hand, if the progeny produced shows only dominant trait, then the
unknown individual is homozygous for a trait. 3
OR

am
gr
le
te
al
fi ci
of

[Topper’s Answer, 2016]

a_

Q. 5. How would you find genotypes of a tall pea plant bearing white flowers ? Explain with the help of a cross.
Sh

Name the type of cross you would use.

R [Delhi Set-III, 2016]
Ans.
et
ik
An

Type of Cross is test cross.

Explanation : Tallness is a dominating trait and white flowers and 50% are dwarf with white
can be expressed in homozygous as well as flowers then this proves the experimental plant
heterozygous condition while recessive traits (in is heterozygous for the dominating trait and if all
pea) are expressed only in homozygous condition. the progenies i.e. 100% plants are tall with white
flowers, this proves that the experimental plant
So, to find out the genotype of the tall pea with
(Tall with white flower) was homozygous for
white flowers we will test cross it with a dwarf pea
tallness and is the dominant trait.
plant bearing white flowers (as it is homozygous).
This type of the cross is the test cross as shown
If the progeny shows 1 : 1 ratio between dominating above. 1+2=3
and recessive trait i.e. 50% progenies are tall with
98 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Q. 6. Write three basic facts that are highlighted in Q. 7. When a snapdragon plant bearing pink colour
Mendel's Law of Dominance. flower was selfed, it was found that, 69 plants were
having red coloured flowers. What would be the
R [Delhi Comptt. 2017, Set – I]
number of plants bearing pink flower. Show with
Ans. (i) Characters are controlled by discrete units the help of Punnett square. Identify the principle
called factors. of inheritance involved in this experiment.
(ii) Factors occur in pairs.
(iii) In a dissimilar pair of factors, one member U [CBSE SQP – 2017]
of a pair dominates (dominant) the other Ans. (i) There will be 138 pink flower bearing plants
(recessive). 1+1+1=3 and 69 white flower bearing plants.
[CBSE Marking Scheme, 2017]
(ii) Pink (Rr) selfing
Detailed Answer:
Gametes R r
(i) Law of dominance states that characters are
R RR Rr
controlled by genes.
Red Pink
(ii) Genes occur in pairs. r Rr rr
(iii) When two alternate forms of a trait or character Pink White

am
(genes or alleles) are present in an organism, Phenotypic ratio : red : pink : white
only one factor express (dominant) itself in
F1 generation. While the other factor remains Genotypic ratio: 1 : 2 : 1

gr
hidden (Recessive). (iii) Incomplete dominance 1+1+1

le
Q. 8. A teacher wants his/her students to find the genotype of pea plants bearing purple coloured flowers in their

te
school garden. Name and explain the cross that will make it possible. A [Delhi Set-I, 2015]
Ans. Purple colour of flower is a dominant trait in pea plants. The genotype of such plants can be determined by test
al
cross. Test cross determines that the dominant character is coming from homozygous dominant genotype or
ci

heterozygous genotype e.g. purple flower coming from PP or Pp. It can be done by crossing plants having purple
coloured flowers with plants having white coloured flowers, which will always have homozygous recessive
fi

genotype.
of

If the progenies obtained, all have purple flowers, the genotype of purple flower would be PP as shown in the
a_

following cross :
pp
Sh
et

Gametes
p p
ik
An

Thus, the genotype of pea plant bearing purple coloured flowers in the school garden can be Pp or PP.
Pp pp
Hybrid Pure
×
Purple White

P p p p

pp pp pp pp

Purple White 3
OR
Purple : white : : 50% : 50% or 1 : 1
Answering Tip Q. 9. During a monohybrid cross involving a tall pea plant
with a dwarf pea plant, the offspring populations
z As per the scope of the syllabus the complete were tall and dwarf in equal ratio. Work out a cross
working of the cross should be shown by Punnett to show how it is possible.
Square. [Outside Delhi Set-I, 2015]
PRINCIPLES OF INHERITANCE AND VARIATION [ 99
Ans. heterozygous for all the three genes, hence 64
combinations or gradations in colour are possible.
In this type of inheritance, the dominant alleles
have cumulative effect where in each dominant
alleles expresses only a part of the trait and the
trait in its full form is expressed only when all the
dominant alleles are present.
On the other hand, the colour of the flower in
pea is controlled by allelic complementary genes,
which independently show a complete effect. The
inheritance is qualitative as here the presence of
The asked scenario is possible only when the tall a single dominant allele expresses the trait in full
pea plant is heterozygous and dwarf pea plant is form and the presence of two dominant alleles does
homozygous. not make any difference. 3
In this case, the progeny would be 50% tall and 50% Q. 12. (i) Why is human ABO blood group gene
dwarf. 3 considered a good example of multiple
Q. 10. (i) Write the conclusions Mendel arrived at on alleles?
dominance of traits on the basis of monohybrid (ii) Work out a cross up to F1 generation only, between

am
crosses that he carried out in pea plants. a mother with blood group A (homozygous) and
the father with blood group B (homozygous).
(ii) Explain why a recessive allele is unable to
Explain the pattern of inheritance exhibited.

gr
express itself in a heterozygous state.
U [Delhi Set-I, II, 2013]
U [Delhi Set-I, 2014]

le
Ans. (i) In human ABO blood group, there are 4 possible
Ans. (i) phenotypes for this character i.e. AB, A, B, O.
(a) Characters are controlled by discrete unit
called factors. ½
te More than two alleles govern the human blood
group. The four blood groups result from various
al
(b) Factors occur in pairs. ½ combination of 3 different alleles.
(c) In a dissimilar pair of factors one member of
ci

(ii) The cross exhibits co-dominance. When the two

the pair dominates / only one of the parental alleles IA and IB are present together both the
fi

character is expressed in a monohybrid cross alleles express themselves equally forming the
of

in the F1 and both are expressed in the F2 1 blood group AB.

a_

(ii) Due to non-functional enzyme / less efficient

enzyme / no enzyme at all. 1
Sh

[CBSE Marking Scheme, 2014]

Detailed Answer :
et

(i) On the basis of monohybrid crosses carried in

pea plants, Mendel concluded that :
ik

(a) The characters are controlled by discrete units

An

called factors now known as genes or alleles.

(b) These factors/genes occur in pairs.
(c) When the factors of a pair are dissimilar
only one expresses itself in F1 generation of This cross exhibit Mendelian pattern of
a monohybrid cross while the manifestation inheritance which states that the two factors
of the other is masked. The character which for a trait segregate at the time of gamete
finds its expression in F1 is called as dominant formation and again come together at the time of
and the latter as recessive factor. On this basis fertilization in the zygote and offsprings.
Mendel formulated the Law of Dominance. 1½ + 1½ = 3
(ii) The recessive allele is unable to express itself in Q. 13. (i) Explain the phenomena of multiple allelism
heterozygous state because this does not code and co-dominance taking ABO blood group as an
for its product probably due to non-functional example.
or less active enzymes. (ii) What is the phenotype of the following :
Q. 11. In pea plants, the colour of the flower is either (i) IAi (ii) ii
violet or white, whereas human skin colour shows
U [Outside Delhi Set-II, 2012]
many gradations. Explain giving reasons how it is
possible. A [Delhi Set-I, Comptt. 2013]
Ans. (i) One gene I has three alleles IA, IB and i
hence multiple allelism. 1
Ans. Human skin colour, an example of polygenic We inherit any two of them. When the
inheritance and it is controlled by at least three genotype is IAIB, the individual has AB blood
separate genes and inheritance of these genes is group since both IA and IB equally influence the
called quantitative inheritance. There can be total formation of Antigen A and B- Co-dominance.
eight allelic combinations in the gametes of a person 1
100 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

(ii) (a) IA i - A blood group. ½

(b) ii - O blood group ½
[CBSE Marking Scheme, 2012]
Detailed Answer :
(i) Multiple allelism is the phenomenon of
occurrence of a gene in more than two allelic
forms on the same locus of homologous pair
chromosome. In ABO blood group in humans,
one gene I has three alleles IA, IB and i.
(i) Mention the blood group as well as its genotype of
Co-dominance is the phenomena in which the offspring numbered 1 in generation II.
both alleles of a gene express themselves when
(ii) Write the possible blood groups as well as their
present together. We inherit any two of these
genotypes of the offsprings numbered 2 and 3 in
three alleles for the blood group. When the
generation III.
genotype is IAIB, the individual has AB blood
A [Outside Delhi Set-I, Comptt. 2012]
group since both IA and IB equally influence the
formation of antigens A and B. Ans. (i) Blood group B; Genotype – IB i
(ii) (a) Offspring Numbered 2: Blood Groups can

am
(ii) (a) IA — A blood group. (b) ii — O blood group. be: O/A Genotype = IA i / ii The blood group
2+1 genotype of the offspring: Mother's blood

gr
Q. 14. In a cross between a true-breeding red-flowered group is O: genotype is ii Father's blood
and a true-breeding white-flowered snapdragon group is A: genotype is IAi Thus, offspring

le
plant, the F1 plants produced pink flowers. Name can be: IA i/ii
and explain the type of inheritance.
A [Delhi Set-I, Comptt. 2012]
te (b) Offspring Numbered 3: Blood Groups can
be: AB/B/O. Genotype: ii/IBi/IBIA. The blood
al
group genotype of the offspring 3 will de-
Ans. Red White
pend on her parents blood group geno-
ci

RR × rr type. Mother's blood group is B: genotype

fi

R r is IBi Father's blood group is A: genotype

of

can be IAIA or IAi Thus, offspring can be:

Rr F1 generation
a_

IAi / ii / IBi / IBIA

Pink The allele IA produces glycoprotein A, found on
Sh

This phenomenon is called as incomplete the surface of red blood cells.

dominance. The allele IB produces glycoprotein B, found on
the membrane of red blood cells.
et

Gamete (Selfing)
R r When the alleles IA and IB are together, they are
ik

equally dominant and both the glycoproteins A

An

RR Rr and B are produced.

R The blood group is determined by the presence
Red Pink
F2 generation 1:2:1 or absence of one or both the glycoprotein i.e.
Rr rr group A, B and AB while group O has neither
r of them. 3
Pink White
Q. 16. How are dominance, co-dominance and
incomplete dominance patterns of inheritance
different from each other ?
It shows incomplete dominance. In a cross between U [Delhi Set-I, II, III, 2011]
true-breeding red flower (RR) and true-breeding
white-flowered plants (rr) in F1 generation we get Ans. Dominance : One allele expresses itself in
pink (Rr) flowers. When F1 was self-pollinated, we the hybrid heterozygous condition, other is
get 1 : 2 : 1 (Red : Pink : White) ratio of flowers. suppressed.
Genotypic ratio was exactly as we would expect but Co - dominance : Both the alleles of a gene
phenotype ratio had changed from 3 : 1 (dominant : express in a heterozygous hybrid containing two
recessive) ratio to 1 : 2 : 1. This is because R was dominant alleles.
not completely dominant over r and it made it Incomplete dominance : Neither of the two alleles
possible to distinguish Rr as pink from RR (red) and of a gene is completely dominant over the other in
rr (white). 3 heterozygous, the hybrid is Intermediate.
Q. 15. Study the following pedigree chart of a family, 1×3=3
starting with mother with AB blood group and [CBSE Marking Scheme, 2011]
father with O blood group.
PRINCIPLES OF INHERITANCE AND VARIATION [ 101
Commonly Made Error Morgan and his group gave to the observations
they obtained from their experiment.
z Students often get confused between terms like
dominance, Co-dominance and incomplete A [Delhi Comptt. 2017, Set – II, III]
dominance. Ans. (i) When two genes in a dihybrid cross were
Q. 17. In pea plants let symbol Y represent dominant located on the same chromosome they did not
yellow; symbol y, the recessive green; symbol R, segregate independently.
the round seed shape and symbol r, the wrinkle (ii) The proportion of parental gene combinations
seed shape. A typical Mendelian dihybrid cross were much higher than non-parental
was carried out in pea plants. Write the genotypes combinations / recombinants.
of :
(i) Homozygous dominant and recessive parents. (iii) Physical association of two genes was termed
as linkage. 1×3=3
(ii) Gametes produced by both the parents.
(iii) F1 offspring. [CBSE Marking Scheme, 2017]
Q. 20. Human blood group is a good example of multiple
(iv) Gametes produced by F1 offspring.
allelism and co-dominance. Justify.
A [Outside Delhi Set-I, II, III, Comptt. 2011] A [Foreign Set-I, 2016]

am
Ans. (i) Genotype of : Ans. Multiple allelism : Generally in an individual/
(a) Homozygous dominant parent—YYRR. population only two alleles of a trait govern the
character but in case of ABO blood group, three

gr
(b) Homozygous recessive parent—yyrr alleles IA, IB and i are found to govern blood group

le
(ii) Gametes produced by both the parents are : in human population.
(a) YR and (ii) yr
(iii) F1 offsprings.
teCo-dominance : Allele IA and IB when present in
an individual, both being dominant express their
al
own types of sugars/antigen (no marks for the
Phenotype — All seeds are yellow round and second step if two alleles are not given correctly).
ci

Heterozygous [CBSE Marking Scheme, 2016] 2+1=3

fi

Genotype — YyRr.
of

Detailed Answer :
(iv) Gametes produced by F1 offsprings In human blood group, there are four possible
a_

phenotypes A, B, AB & O. These blood groupings

4 types – YR Yr yR yr are controlled by gene I. There are three instead of
Sh

normally two alleles of this gene namely IA, IB & i

1+1+½+½
which control these four blood groups. Hence it is
et

Q. 18. During his studies on genes in Drosophila that an example of multiple allelism.
were sex-linked T.H.Morgan found F2 - population
ik

Out of these three alleles IA and IB are dominant

phenotypic ratios deviated from expected 9 : 3 : 3 : over i. Each person in a population possesses any
An

1. Explain the conclusion he arrived at. two of the three alleles, one from each of the two
A [Delhi Set-I, 2010] parents. When allele IA and IB both are present
together in an individual, both being dominant
Ans. (i) Linkage, genes on the same chromosome were express equally and independently and hence are
either closely associated or far apart. co-dominant.
(ii) Higher percentage of parental combination
Thus, human blood is a good example of both
and fewer percentage of recombinants are multiple allelism as well as co-dominance.
observed when two genes are located very
close / tightly linked on the same chromosome. Q.21. Write the percentage of F2 homozygous and
(iii) Higher percentage of recombinants and fewer heterozygous population in a typical monohybrid
cross. R [CBSE Foreign, 2010]
percentage of parental combinations are
observed when two genes are located far apart / Ans. 50% are homozygous and 50% heterozygous.
loosely / linked on the same chromosome. Out of the homozygous population 25% is
1×3=3 homozygous dominant and 25% homozygous
recessive. The genotypic ratio is 1 : 2 : 1 (25%
[CBSE Marking Scheme, 2010] homozygous dominant, 50% heterozygous
Q. 19. When Morgan conducted dihybrid cross on dominant and 25% homozygous recessive). 3
Drosophila like Mendel did with pea plants,
the ratios deviated significantly from that [CBSE Marking Scheme, 2010]
of Mendel's F2 ratio. Write the explanation
102 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Long Answer Type Questions (5 marks each)

Q. 1. Give a genetic explanation for the following cross. When a tall pea plant with round seeds was crossed with
a dwarf pea plant with wrinkled seeds then all the individual of F1-populations were tall with round seeds.
However selfing among F1-population led to a 9 : 3 : 3 : 1 phenotypic ratio.
A [Outside Delhi Set-II, 2016]

Ans. Tall Round Dwarf Wrinkled

TTRR ttrr

TR tr

TtRr
/ F1 genotype
Tall Round

am
Self Cross

gr
TtRr X TtRr

le
TR Tr tR tr
TR TTRR
Tall
TTRr
Tall
TtRR
Tall te
TtRr
Tall
/ Gametes formed
to develop F2 plants
al
Round Round Round Round
Tr TTRr TTrr TtRr Ttrr
ci

Tall Tall Tall Tall

fi

Round Wrinkled Round Wrinkled

of

tR TtRR TtRr ttRR ttRr

Tall Tall Dwarf Dwarf
a_

Round Round round Round

tr TtRr Ttrr ttRr ttrr
Sh

Tall Tall Dwarf Dwarf

Round Wrinkled round wrinkled
2
et

Phenotypic ratio —
ik

Tall Tall Dwarf Dwarf / F2 Phenotype ½

An

Round Wrinkled Round Wrinkled

9 : 3 : 3 : 1 ½
Law of dominance : In a dissimilar pair of factors, one member of the pair is dominant and the other is recessive.
In the given cross tall and round are dominant where as dwarf and wrinkled are recessive (explain with or
without a cross). ½
Law of Segregation : Allelic pairs separate or segregate during gamete formation and the paired condition is
restored during fertilisation (explain with or without a cross). ½
Law of Independent Assortment : The new combination seen in F2 generation (Tall wrinkled) (Dwarf round)
is only possible when the two gene pairs for height and seed shape assort independently of each other during
gamete formation. The law states that when two pairs of traits are combined in a hybrid, segregation of one pair
of characters is independent of the other pair of characters. 1
[CBSE Marking Scheme, 2016] 1
Detailed Answer : In F2 progeny, there would be some tall plants with
round seeds and dwarf plants with wrinkled seeds.
Genetic explanation of the cross : If a pea plant
with two pairs of contrasted characteristics like tall/ However, there would be some plants with
dwarf and round/wrinkled seeds are crossed the recombination of characters such as tall plants with
F1 progeny would have all tall plants with round wrinkled seeds and dwarf plants with round seeds.
seeds according to the law of dominance. This This depicts that tall-dwarf and round/wrinkled
implies that tallness is dominant over dwarfness traits are inherited independent of each other
and round seed is dominant over wrinkled seeds. following law of independent assortment, which
PRINCIPLES OF INHERITANCE AND VARIATION [ 103
states that when two traits are taken in a cross genotypes with respect to the two traits mentioned
the segregation of one trait is independent to the only by ‘selfing’ the given plants.
segregation of other character. A [Outside Delhi Set-II, Comptt. 2016]
Q. 2. (i) What is polygenic inheritance ? Explain with Ans. Tall plant = TT/Tt
the help of suitable example. Violet flowers = WW/Ww
(ii) How are pleiotropy and Mendelian pattern of Genotype of given plant could be any of the
inheritance different from polygenic pattern of assumed four : TTWW, TTWw, TtWW, TtWw. 1
inheritance? U [Outside Delhi Set-III, 2016] Case 1 :
Ans. (i) Inheritance in which traits are controlled by Selfing of TTWW Gametes TW
three or more genes, e.g., human skin colour /
height, the inheritance depends upon the additive
/ cumulative effect of alleles, more the number of + TW
dominant alleles the expression of the trait will be TW TTWW
more distinct / prominent, more the number of
recessive alleles the trait will be diluted, if member All tall and violet, then genotype of parent is
of dominant and recessive alleles are equal the TTWW 1
effect is intermediate. Case 2 :

am
½×6=3
Same explanation with the help of any suitable Selfing of TTWw Gametes TW , Tw
example.

gr
(ixi) + TW Tw

le
Single gene controls multiple phenotypic expression TW TTWW TTWw
(Pleiotropy), one gene controls one phenotypic
expression (Mendelian). 1+1=2 te Tw TTWw TTww

Phenotypic ratio 3 : 1 (3 tall violet : 1 tall white) then

al
[CBSE Marking Scheme, 2016]
Detailed Answer : Parent is TTWw . 1
ci

(i) Polygenic inheritance is the inheritance of Case 3 :

fi

traits that are produced by the combined effect Selfing of TtWW Gametes TW , tW
of

of many genes. Polygenic trait is controlled

by more than one pair of non-allelic genes
a_

+ TW tW
and shows different types of phenotypes. For
TW TTWW TtWW
Sh

example, human skin colour is an example of

polygenic inheritance. It is caused by a pigment tW TtWW ttWW
et

called melanin due to three pairs of polygenes Phenotypic ratio 3 : 1, (3 tall violet : 1 dwarf violet)
(A, B and C). then Parent is TtWW 1
ik

(ii) Mendelian inheritance refers to the expression Case 4 :

An

of monogenic traits i.e. gene expression is

Selfing of TtWw Gametes TW , Tw , tW , tw
controlled by one gene. In a pair of alleles,
expression of the recessive gene is always
masked by the expression of a dominant gene. + TW Tw tW tw
Pleiotropy is the ability of a gene to have multiple TW TTWW TTWw TtWW TtWw
phenotypic effects because it influences several Tw TTWw TTww TtWw Ttww
characters simultaneously.
tW TtWW TtWw ttWW ttWw
Polygenic inheritance, on the other hand is a type
of inheritance controlled by one or more genes tw TtWw Ttww ttWw ttww
in which the dominant alleles have a cumulative Tall violet = 9
effect with each dominant allele expressing a
Tall white = 3
part or unit of the trait, the full being shown only
when all the dominant alleles are present. Dwarf violet = 3
Q. 3. A tall pea plant bearing violet flowers is given Dwarf white = 1
with its unknown genotypes. Explain by working If phenotypic ratio 9 : 3 : 3 : 1, then parent is TtWw.
out the crosses how would you find the correct 1
Q. 4. (i) Work out a dihybrid cross upto F2 generation between homozygous tall pea plant bearing violet flowers and
dwarf pea plants bearing white flowers.
(ii) Name the law that Mendel deduced from such a dihybrid cross. A [Outside Delhi Set-III, Comptt. 2016]
Ans. (i) A dihybrid cross between a homozygous :
(a) Tall pea plant bearing violet flowers (Dominant). Genotype TTVV.
104 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

(b) Dwarf pea plant bearing white flowers (recessive). Genotype ttvv.
Tall violet Dwarf white
(a) Parent pea plants TTVV X ttvv

Gametes
TV TV tv tv

F1 TtVv (Selfing) TtVv All hybrid Tall pea plants bearing violet flower

Gametes +
TV tV Tv tv

TV TTVV TtVV TTVv TtVv

tV TtVV ttVV TtVv ttVv

Tv TTVv TtVv TTvv Ttvv

am
tv TtVv ttVv Ttvv ttvv

gr
F2

le
Phenotypic ratio : Tall violet Tall white dwarf violet dwarf white
9 :
(ii) Law of Independent Assortment.
3 : 3 te : 1
al
4+1=5
ci

Answering Tip
Train students to understand and state Mendel’s laws in simple words, giving importance to operative words.
fi

z
Stress on the difference between Monohybrid and Dihybrid cross, F1 and F2 generation.
of
a_

Q. 5. How do ‘Pleiotropy’, ‘incomplete dominance’, ‘co-dominance’ and ‘polygenic inheritance’ deviate from the
observation made by Mendel ? Explain with the help of example for each. A [Delhi Set-II, Comptt. 2015]
Sh

Ans. No. Mendel’s Observations Deviations

(i) One gene responsible for a single Pleiotropy : Single gene exhibits multiple phenotypic
et

phenotype. expressions e.g., Disease Phenylketonuria (a single gene

codes for enzyme phenylalanine hydroxylase which
ik

manifests in form of mental retardation and reduction in

An

hair and skin pigmentation.

(ii) Only one of the parental characters appear Incomplete dominance : In a monohybrid cross (with
in a monohybrid cross (with contrasting) contrasting character) phenotype in the F1 generation did
character in the F1 generation. not resemble either of the two parents and was in between
the two e.g., Dogflower/snapdragon/Antirrhinum.
(iii) Only one of the parental characters appear Co-dominance : In a monohybrid cross (with contrasting
in a monohybrid cross with contrasting character) phenotype in the F1 generation expresses genes
characters in the F1 generation. of both the parents e.g., ABO blood group.
(iv) All the traits have distinct alternate forms Polygenic inheritance : The occurrence of traits are
since one gene is responsible for a single spread across a gradient. Such traits are controlled by
phenotype. three or more genes. e.g. Human height/skin colour.

[CBSE Marking Scheme, 2015] 5

Q. 6. (i) Dihybrid cross between two garden pea plant generation obtained in this cross along with the
one homozygous tall with round seeds and the explanation provided by Mendel.
other dwarf with wrinkled seeds was carried. (ii) How were the observations of F2 progeny of
(a) Write the genotype and phenotypes of the F1 dihybrid crosses in Drosophila by Morgan
progeny obtained from the cross. different from that of Mendel carried out in pea
(b) Give the different types of gametes of the F1 progeny. plants ? Explain giving reasons.
(c) Write the phenotypes and its ratios of the F2 A [Delhi Set-I, Comptt. 2015]
PRINCIPLES OF INHERITANCE AND VARIATION [ 105
Ans. (i) (a) Case 4
Parents TTRR x ttrr

Gametes TR tr

F1 - TtRr, Tall Round ½+½

Phenotype : 1 Yellow round , 1 Yellow wrinkled ,
(b) Gametes F TR Tr tR tr ½+½ 1 Green round and 1 Green wrinkled.
Then parent is YyRr
(c) Phenotypic ratio [CBSE Marking Scheme, 2015] 1
Tall Round : Tall Wrinkled : Dwarf Round : Dwarf Wrinkled ratio
9 : 3 : 3 : 1 Q. 8. Explain the genetic basis of blood grouping in
Explanation : The Law of Independent Assortment human population. U [Delhi Set. III, Comptt. 2015]
states that when two pairs of traits are combined Ans. There are four types of blood groups in human
in a hybrid, segregation of one pair of character population namely A, B, AB and O. They are
is independent of the segregation of other pair of determined by presence or absence of two types
characters. of RBC surface antigens / sugar polymer A and B.

am
(ii) Morgan observed the result of linkage of Individuals with blood group A have antigen A,
genes on a chromosome but Mendel did not while those with group B have antigen B, AB have
observe phenomenon of linkage in pea plants /F2

gr
both the antigens and ‘O’ persons do not have any
ratio of Morgan deviated significantly from 9 : 3 : antigen. The type of antigens and their presence

le
3 : 1 ratio (Mendelian ratio). 3 or absence is controlled by gene I which has three
[CBSE Marking Scheme, 2015] alleles IA, IB and i. IA produces antigen A, IB antigen
Q. 7. A pea plant producing yellow coloured and round
seeds is given with unknown genotypes. Explain
teB whereas allele i (i°) does not form any antigen and
is recessive. IA and IB are dominant over i and show
al
how you would find the correct genotypes of the dominant-recessive relationship. When IA and IB
ci

plants with respect to the two traits mentioned. both are present together in a person, both express
Work out the cross and name it. themselves equally, independently and produce
fi

the surface antigen A and B and therefore show

of

A [Outside Delhi Set-III, Comptt. 2015]

the phenomenon of co-dominance. Such genes are
Ans. Test Cross 1 called as co-dominant because human beings are
a_

Case 1 : diploid individuals, each person therefore have

any two of these three alleles of gene I. This results
Sh

into six different genotypic combination and four

phenotypic expressions as follows :
et

If all phenotypes is yellow and round then the Table showing genetic basis of blood groupings
ik

genotype of parents is YYRR. (Homozygous) 1 Sr. Blood Groups Possible

An

Case 2 : No. Phenotype genotypes

(i) A IA IA ; IAi

(ii) B IB I B ; I B i

(iii) AB I A IB

(iv) O ii.
Phenotypes : 1 Yellow round and 1 Green round
Then the genotype of the parent is YyRR Blood group alleles thus show both co-dominance
(Heterozygous for yellowness) 1 and dominance relationship. 5
Case 3 Q. 9. Mendel published his work on inheritance of
characters in 1865, but it remained unrecognized
till 1900. Give three reasons for the delay in
accepting his work.
U [Outside Delhi Set-III, 2014; Delhi Set-I, 2011]
OR
Although Mendel published his work on
inheritance of characters in 1865 but for several
Phenotype : 1 Yellow round and 1 Yellow
wrinkled. reasons, it remained unrecognised till 1900.
Then the genotype of parent is YYRr Explain giving three reasons why it took so long ?
(Heterozygous for shape of seed) 1 [Delhi Set-I Comptt. 2016]
106 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Ans. Work of Mendel could not be widely publicised Ans. Human blood group is determined by glycoprotein
due to poor communication / his concept of / antigen A and glycoprotein / antigen B. 1
genes or factors as discrete units and which did The alleles are IA, IB and i - Hence referred to as
not blend was not accepted due to continuous multiple allelism. 1
variation seen in nature/no proof of existence of
The individual inherits any two of them as given
factors and what they were made of /Mendel used
below
mathematics to explain biological phenomenon
which was new and unacceptable. IA IA, IA i — A group
[CBSE Marking Scheme, 2016] 5 IB IB, IB i — B group
Detailed Answer : IA IB — AB group
The communication was not easy in those days ii — O group 1
and his work could not be widely publicised. In the case of A, B and O — Law of dominance is
(i) His concept of genes as stable and discrete units the pattern of inheritance as IA / IB dominant over i.
that controlled the expression of traits and of 1
the pair of alleles which did not 'blend' with In AB group both the alleles IA and IB express — It
each other was not accepted by contemporaries is the case of Co-dominance. 1
as an explanation for the apparently continuous

am
[CBSE Marking Scheme, 2014]
variation seen in nature.
(ii) Mendel's approach of using statistical Q. 12. (i) Explain a monohybrid cross taking seed coat

gr
calculations to explain biological phenomena colour as a trait in Pisum sativum. Work out the
was totally new and unacceptable to many of cross upto F2 generation.

le
the biologists of his time because they were (ii) State the laws of inheritance that can be derived
beyond the comprehension of the biologists of from such a cross.
the time.
(iii) Though Mendel's work suggested that factors
te
(iii) How is the phenotypic ratio of F2 generation
different in a dihybrid cross ?
al
(genes) were discrete units, he could not U [Outside Delhi Set-II, 2014]
ci

provide any physical proof for the existence of

Ans. (i) YY X yy
fi

factors and what they were made of. 5 yellow green

of

Q. 10. A cross was carried out between a pea plant

heterozygous for round and yellow seeds with a
a_

pea plant having wrinkled and green seeds.

Sh

(i) Show the cross in Punnett square. Yy F 1

(ii) Write the phenotype of the progeny of this cross. yellow ½
et

(iii) What is this cross known as ? State the purpose

selfed
of conducting such a cross.
ik

A [Delhi Set-I, 2014] Y y

An

Ans. (i)
RrYy X rryy ½ YY Yy
Y yellow yellow
Round Yellow Wrinkled Green

Gametes RY rY Ry ry ½ F2

Yy yy
y 1
ry RrYy rrYy Rryy rryy ½+½ yellow green

(ii) Round and yellow – 25% ½

Wrinkled and yellow – 25% ½ F2 – Phenotypic ratio = 3 : 1
Round and green – 25% ½ Genotypic ratio = 1 : 2 : 1 ½
(ii) Law of Dominance – In a contrasting pair
Wrinkled and green – 25% ½ of factors one member of the pair dominates
(iii) Test cross, to identify the genotype of unknown (dominant) the other (recessive). 1
if it is homozygous dominant or heterozygous Law of Segregation : Factors or allele of pair
dominant. segregate from each other so that a gamete
receives only one of the two factors. 1
[CBSE Marking Scheme, 2014] ½ + ½ (iii) Phenotypic ratio of F2 in monohybrid cross is 3
: 1 whereas in a dihybrid cross the phenotypic
Q. 11. Describe the mechanism of pattern of inheritance
of ABO blood groups in humans. ratio is 9 : 3 : 3 : 1.
U [Delhi Set-I, 2014, Outside Delhi Set-III, 2014] [CBSE Marking Scheme, 2014] 1
PRINCIPLES OF INHERITANCE AND VARIATION [ 107
Detailed Answer : expressions of a character separate out and
appear in F2 generation in a definite proportion
(i) Explanation of Monohybrid cross : The
of 3 : 1. This is called as monohybrid ratio
monohybrid cross is a cross in which the or segregation ratio. The two alleles for a
inheritance of a single pair of contrasting character in the hybrid individual do not blend
characters is taken into consideration. A cross or influence each other but separate during
is made between true breeding yellow seed gamete formation and therefore gamete receive
coat colour variety and green seed coat colour only one of the two factors but never both. The
variety of pea plants. All the hybrid offsprings gametes are pure for a given character. This is
obtained in F1 generation are with yellow seed known as the Law of Purity of Gametes.
coat colour. This means the yellow seed coat
colour is dominant over green seed coat colour (iii) Refer to CBSE Marking Scheme (Answer).
as only this trait appeared while the masked Q. 13. (i) Explain Mendel's Law of Independent
manifestation of other trait is totally marked. Assortment by taking a suitable example.
When F1 offspring hybrids were allowed for
selfing the yellow seed coat plants and green (ii) How did Morgan show the deviation in inheritance
pattern in Drosophila with respect to this law ?
seed coat plants appeared in the ratio of 3 : 1.
The green seed coat plants are homozygous R [Outside Delhi Set-III, 2013]
(yy) as they produced only green seed coat

am
plants in successive generations when self Ans. (i)
pollinated. 1/3 of yellow seed coat plants also

gr
are homozygous (YY) because they produced
only yellow seeded plants on selfing while 2/3

le
of yellow seeded plants are heterozygous (Yy)
as they produced both yellow and green seeded
plants on selfing. Thus the genotypic ratio is 1 :
2 : 1.
te
al
fi ci
of
a_
Sh
et
ik
An

(ii) The following laws of inheritance can be

derived from the monohybrid cross.
Phenotypic ratio : round yellow : round green :
(a) Principle of dominance : During hybridization 9 3
out of the two contrasting alleles / characters wrinkled yellow : wrinkled green
only one makes it appearance in the hybrid in F1 3 1 1
generation while the manifestation of the other
Law of Independent Assortment : It states that
is masked. Then the character which appears in when two pairs of contrasting traits are combined
the hybrid or the allele which expresses its effect in a hybrid, segregation of contrasting one pair
in the individual / hybrid is called as dominant of character is independent of the other pair of
while the other, which does not show its effect characters. 1
in the hybrid / heterozygous individual is called
(ii) Both parental type and recombinant types are
as recessive. This is universal phenomenon in
observed to show that genes for the colour
all types of crosses and is called as the Principle
and genes for the shape of seeds segregate
of Dominance. independently during gamete formation. 1
(b) Law of Segregation : This is the second law
[CBSE Marking Scheme, 2013]
of Mendel. This law states that if hybrids of
F1 individuals are allowed for selfing the two
108 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Detailed Answer :
(i) Law of Independent Assortment : It states
that when two individuals differing in two
pairs of contrasting characters are crossed,
the segregation of one pair of character into
3 : 1 ratio is independent of the segregation
of another pair of contrasting characters into
3 : 1 ratio and also some non-parental new
recombination of character also appear in the
ratio of 9 : 3 : 3 : 1 in F2 generation as shown
in the above cross. This is because the alleles
of different characters are located on different
pairs of homologous chromosomes and that
they are independent from one another in their
segregation during gamete formation.
(ii) Morgan however observed the deviation in
inheritance pattern in Drosophila with regard to

am
this law. He observed that in Drosophila the F2
ratio in a dihybrid cross deviates significantly (Deviation from Mendelian Law of Dominance) :
from 9 : 3 : 3 : 1 ratio. This is because the genes The trait of seed shape follows Law of Dominance

gr
were linked. They are located on the same and the hybrid will show only dominant trait. 5
chromosome and therefore inherited together.

le
[CBSE Marking Scheme, 2012]
Because of this the parental types observed
in F2 generation were greater than the new
recombinations. Linkage was not observed te
Detailed Answer :
The starch synthesis in pea plant is controlled by
al
by Mendel because the characters which he a single gene. This gene in pea plant shows some
had chosen were not linked as their genes are degree of pleiotropy as it controls the shape of the
ci

located on different chromosome and when on seed and in addition the size of starch grain too. This
fi

the same chromosome they were quite apart. gene has two alleles B and b. The BB homozygotes
of

produce large starch grains as compared to those

Q. 14. What is the inheritance pattern observed in the size produced by bb homozygotes. Mature homozygous
a_

of starch grains and seed shape of Pisum sativum ? BB seeds were round while bb seeds were wrinkled.
Work out the monohybrid cross showing the above The heterozygotes Bb form round seeds but the
Sh

traits. How does this pattern of inheritance deviate starch grains were of intermediate size. Thus if
from that of Mendelian Law of Dominance ? the size of starch grain is considered the Bb seeds
show the phenomenon of incomplete dominance,
et

A [Delhi Set-II, 2012]

but if seed shape is considered then allele B and
ik

Ans. A single gene controls the size of the starch grain b show dominant-recessive relationship. Thus in
this case the pattern of inheritance deviates from
An

and the seed shape.

the Mendelian Law of Inheritance in that here the
The trait of size of starch grain shows incomplete
dominance of an allele is not absolute but depends
dominance. Hence in heterozygous condition the
upon the product and the particular phenotype
starch grain are of intermediate size.
that it forms.

Q. 15. (i) Explain Polygenic and Multiple allelism with the help of suitable examples.
(ii) ”Phenylketonuria is a good example that explains Pleiotropy.” Justify. A [Outside Delhi - 2017 Set - II]
Ans. (i) Traits that are generally controlled by three or more genes, the phenotype reflects the contribution of each
allele / effect of each allele is additive. ½+½
eg. Human skin colour, controlled by three genes (A, B, C). ½+½
In multiple allelism more than two alleles, govern the same character / phenotype. ½+½
eg. Human blood group (ABO system), controlled by three different alleles (IA, IB, i). ½+½
(ii) In pleiotropy a single gene can exhibit multiple phenotypic expressions, in phenylketonuria single mutated
gene express mental retardation and reduction in hair and skin pigmentation. ½+½
[CBSE Marking Scheme, 2017]
Detailed Answer :
(i) In case of polygenic inheritance, traits are controlled by three or more genes (multiple genes). The phenotype
is produced as a result of participation of several genes. For example, human skin colour is controlled by three
genes (A, B, C).
In case of multiple allelism, more then two alleles are present for a character. For example, human blood group
system (ABO). In this case, more than two i.e., three alleles are governing the same character.
PRINCIPLES OF INHERITANCE AND VARIATION [ 109
(ii) Pleiotropy is the phenomenon in which a single gene exhibit multiple phenotypic expression. In phenyketonuria,
a single gene mutation leads to multiple phenotypic expression i.e., hair and skin pigmentation and mental
problems.
OR
Ans.

am
gr
le
te
al
fi ci
of
a_
Sh
et
ik
An
110 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, Biology, Class – XII

am
gr
le
te
al
ci
ffi
_o
ha
tS
i ke
An

[Topper’s Answer, 2017]

Answering Tip
 Learn main laws, principles and key-words/
acronyms with proper understanding.
Q. 16. (i) Work out a dihybrid cross upto F2 generation
between pea plants bearing violet coloured axial
flowers and white coloured terminal flowers. Give
their phenotypic ratio.
(ii) State the Mendel's law of inheritance that was
derived from such a cross.
 A [Outside Delhi Comptt. 2017, Set - III]
Ans. (i)
PRINCIPLES OF INHERITANCE AND VARIATION [ 111
VA vA Va va
VVAA VvAA VVAa VvAa
VA Violet Violet Violet Violet
axial axial axial axial
VvAA vvAA VvAa vvAa
vA Violet White Violet White
axial axial axial axial Phenotypes – Yellow : Yellow : Green : Green
round wrinkled round wrinkled
VVAa VvAa VVaa Vvaa Phenotype ratio – 9 : 3 : 3 : 1
Va Violet Violet Violet Violet
(Four different types of phenotypes in correct
axial axial terminal terminal
ratio) ½+½
VvAa vvAa Vvaa vvaa (Formation of new phenotypes along with parental
va Violet White Violet White phenotypes is possible because inheritance of two
axial axial terminal terminal pairs of contrasting traits or genes in the progeny
1 is independent of each other) 4+1=5
Phenotypes – violet axial : white axial : violet  [CBSE Marking Scheme, 2017]
terminal : white terminal

am
Q. 18. (i) How are polygenic inheritance and multiple
Phenotype ratio – 9 : 3 : 3 : 1  1 allelism different ? Explain with the help of an
(ii) Law of Independent Assortment : When two example each.
pairs are combined in a hybrid segregation of

gr
(ii) List the criteria a chemical molecule must fullfil to
one pair of characters is independent of the
be able to act a genetic material.

le
other pair of characters.  1
 A [Delhi Comptt. 2017, Set - II, III]
[CBSE Marking Scheme, 2017]
Q. 17. State and explain the ”law of independent
assortment” in a typical Mendelian dihybrid
te
Ans. (i)
Polygenic Multiple
al
cross. U [Delhi 2017, Set – I, II, III] Inheritance Allelism
OR
ci

Controlled by three More than two al-

Work out a typical Mendelian dihybrid cross and
ffi

or more genes leles govern the

state the law that he derived from it.
 [Delhi Set-II, 2014] same character
_o

Or Example : A - B - C Example : ABO

(i) State the Law of Independent Assortment. gene control human blood grouping in
ha

(ii) Using Punnett Square demonstrate the law of skin colour humans = 2
independent assortment in a dihybrid cross 2
tS

involving two heterozygous parents. (ii) (a) It should be able to generate its replica /
 [Outside Delhi Set-I, 2010] replication.
ke

Ans. (i) Law of Independent Assortment : When two (b) It should be chemically and structurally stable.
pair of traits are combined in a hybrid, inheritance (c) It should provide the scope for slow changes /
i
An

of one pair of characters is independent of the other mutation that are required for evolution.
pair of characters / when two pairs of contrasting
(d) It should be able to express itself in the form of
characters or genes or traits are inherited together
a Mendelian characters.
in a dihybrid cross (in a pea plant) the inheritance of
one pair of character is independent of inheritance  (Any three) 1 × 3=3
of the other character in the progeny.  1 [CBSE Marking Scheme, 2017]
Explanation : Mendel took homozygous pea plant Q. 19. Skin colour in humans does not have distinct
producing yellow and round seeds, crossed them alternate forms but shows a whole range of possible
with homozygous pea plant producing green
variations in skin colour. Explain the pattern of
and wrinkled seeds / shown in a flow chart of a
inheritance of such a triait. What is this type of
dihybrid cross given.
inheritance known as ? Provide another example
of exhibiting such an inheritance pattern.
 A [Outside Delhi Comptt. 2017, Set - II]
Ans. Skin colour is controlled by three genes; A, B, C
dominant genes and a, b, c the recessive genes;
the effect of each type of allele is additive; more
dominant allele, darker the skin colour; more
the recessive allele, lighter the skin colour; when
three dominant alleles and three recessive alleles
are present in an individual the skin colour is
intermediate.  ½×6

112 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

(i) Polygenic inheritance 1

(ii) Human Height / or any other correct example.
1
[CBSE Marking Scheme, 2017]

Detailed Answer :
Human skin colour is caused by pigment called
melanin. The quantity of melanin is due to three
pairs of polygenes (A, B and C). If black or very dark
(AA, BB, CC) and very light (aa, bb, cc) individual
marry, the offspring show intermediate colour (Aa, f
Bb, Cc). Such type of inheritance is called polygenic flower)
inheritance because a phenotype is controlled by Conclusion : If all progeny show axial flowers
one or more genes and show the cumulative effect. (dominant) the plant is homozygous (AA), If
Another example is : In cotton, a gene for the lint 50% of progeny show Axial flower (Dominant)
also influences the height of plant, size of ball, and 50% Terminal flower (Recessive) the plant
number of ovules and viability of seeds. is heterozygous. ½+½
Q. 20. (i) A pea plant bearing axial flowers is crossed (ii) Law of Segregation : allelic pair segregate

am
with a pea plant bearing terminal flowers. The (separates) during gamete formation (do not
cross is carried out to find the genotype of pea loose their identity). ½+½
[CBSE Marking Scheme, 2017] 5

gr
plant bearing axial flowers. Work out the cross to
show the conclusions you arrive at. Q. 21. Describe the dihybrid cross carried on

le
(ii) State the Mendel's law of inheritance that is Drosophila melanogaster by Morgan and
universally acceptable.
A [Outside Delhi - 2017, Set-II] te his group. How did they explain linkage,
recombination and gene mapping on the basis
of their observations ?
al
Ans. (i) If the plants is homozygous for the dominant
trait A [Foreign Set - I, II, III , 2017]
ci

Ans. According to Morgan and his group, if genes

fi

are tightly linked they showed very low

of

recombination. 1
a_

(shown in cross A) 1
If genes were loosely linked they showed very high
Sh

recombination. 1
(shown in cross B) 1
et

The group used the frequency of recombination

(ii) If the plants is heterozygous for the dominant
ik

between gene pairs on the same chromosome as a

trait measure of distance between genes and ‘mapped‘
An

their position on the chromosome. 1

miniature

miniature
PRINCIPLES OF INHERITANCE AND VARIATION [ 113

am
Q. 22. In a dihybrid cross, white eyed, yellow bodied Ans. (a) Drosophila melanogaster 1
female Drosophila was crossed with red eyed, They observed that two genes (located closely on

gr
brown bodied male Drosophila. The cross produced a chromosome) did not segregate independently
of each other (F2 ratio deviated significantly from

le
1.3 percent recombinants and 98.7 progeny with
parental type combinations in the F2 generation. 9 : 3 : 3 : 1). =½ Tightly linked genes tend to show
Analyze the above observation and compare with
the Mendelian dihybrid cross.
te
fewer (lesser) recombinant frequency of parental
traits / show higher (more) frequency of parental
al
A [CBSE SQP, 2018] type. ½
Loosely linked genes show higher percentage
ci

Ans. Morgan observed that the two genes did not

segregate independently of each other and the F2 (more) of recombinant frequency of parental traits
fi

ratio deviated very significantly from the 9:3:3:1 / lower frequency percentage of parental type ½
of

ratio. 1 Genes present on same chromosome are said to be

linked and the recombinant frequency depends on
a_

He attributed this to physical association or linkage

their relative distance on the chromosome. ½
of two genes, coined the term linkage and the term
(b) He used the frequency of recombination between
Sh

recombination to describe the generation of non-

gene pairs on the same chromosome, as a measure
parental gene combinations. 1
of the distance between genes and mapped their
et

Morgan and his group found that even when position on the chromosome. 1+1
the genes are grouped on the same chromosome,
ik

[3+2=5 Marks]
some genes are very tightly linked (show very low
An

recombination) while others were loosely linked [CBSE Marking Scheme, 2018]
(showed higher recombination). 1 Detailed Answer:
In the Mendelian dihybrid cross, the phenotypes (a) Thomas Hunt Morgan and his colleagues used fruit
round, yellow; wrinkled, yellow; round, green and fly or Drosophila melanogaster to study linkage.
wrinkled, green appeared in the ratio 9:3:3:1. OR Morgan carried out several dihydric crosses in
cross (given below). 1 Drosophila to study sex-linked genes. In one such
Wrinkled, yellow and round, green is possible experiment, he crossed yellow-bodied, white-eyed
because the distance between two genes are females with brown-bodied, red-eyed males (wild
more. Therefore, recombination of parental type is type). He found that the :
possible. 1 Two genes did not segregate independently of each
For flow chart: Refer- LAQ/Q. 17 other and the F2 ratio deviated from the 9:3:3:1 ratio,
[CBSE Marking Scheme, 2018] (expected when the two genes are independent).
Morgan attributed this due to the physical
Q. 23. (a) Write the scientific name of the organism
association or linkage of the two genes and
Thomas Hunt Morgan and his colleagues worked
coined the term linkage. He stated that higher
with for their experiments the correlation between
the linkage between two, lesser are the chances of
linkage and recombination with respect to genes
recombination.
as studied by them.
(b) How did Sturtevant explain gene mapping while (b) Alfred Sturtevant used the recombination
working with Morgan frequency between gene pairs as a measure of
R [Outside Delhi/Delhi, 2018] physical distance between genes and ‘mapped’
their position on the chromosome. This process
114 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

of mapping, which are used today for genome

sequencing projects as in Human Genome Project.
3+2
Q. 24. A particular garden pea plant produces only violet
flowers
(i) Is it homozygous dominant for the trait or
heterozygous ?
(ii) How would you ensure its genotype ? Explain
with the help of crosses. R [Outside Delhi 2009]
Ans. (i) The plant should be homozygous dominant as
it produces violet flowers only. Parent Heterozygous
(ii) Its genotype can be ensured by performing Violet White
the test cross. In this cross if all the F1 plants Vv vv
obtained (100%) are with violet flowers then
it is homozygous & if the violet & white V v v
flowers appear in 1:1 ratio then the plant is
heterozygous (Vv). Test crosses can be shown
as follows :

am
Vv vv
violet white
flowers flowers

gr
50% 50% 5

le
TOPIC-2
Sex Determination and Chromosomal Disorder te
al
ci

Revision Notes
fi
of

¾ Sex determination
‡ The method by which the distinction between male and female is established in a species is called sex
a_

determination.
‡ Sex of an individual is finalized at the time of zygote formation.
Sh

¾ Autosomes and Sex chromosomes (allosomes)

Autosomes are chromosomes other than sex chromosomes. They contain genes which determine somatic
et

‡
characteristics.
ik

‡ Number of autosomes is same in males and females.

An

‡ Sex chromosomes (X & Y) are the chromosomes which are involved in sex determination.
‡ Henking (1891) studied spermatogenesis in some insects and observed that 50 % of sperm received a nuclear
structure after spermatogenesis, whereas other 50 % sperm did not receive it.
‡ Henking called this structure as the X body (later it was called as X-chromosome).
¾ Mechanism of Sex Determination
(i) Chromosomal sex determination : It is based on heterogamety i.e., occurrence of two types of gametes in one of
the two sexes. It is of following types :
(a) XX-XO mechanism :
Here, male is heterogametic i.e. XO besides autosomes (Gametes with X and gametes without X) and female
is homogametic i.e. XX (all gametes are with X chromosomes) e.g. Many insects such as grasshopper.
(b) XX-XY mechanism :
Male is heterogametic (X & Y) and female is homogametic (X only). e.g. Human and Drosophila.
(c) ZZ-ZW mechanism :
Male is homogametic (ZZ) and female is heterogametic (Z & W). e.g. Birds.
(d) ZO-ZZ mechanism : Females have only Z-chromosomes besides autosomes and males have a pair of
Z-chromosomes e.g. in cockroaches.
XX-XO & XX-XY mechanisms show male heterogamety. ZZ-ZW mechanism shows female heterogamety.
Females have only Z chromosome besides autosomes and males have a pair of Z chromosome as seen in
cockroaches.
PRINCIPLES OF INHERITANCE AND VARIATION [ 115
¾Sex Determination in Humans (XX-XY type)
‡ Human has 23 pairs of chromosomes (22 pairs are autosomes and 1 pair is sex chromosomes).
‡ A pair of X-chromosomes (XX) is present in the female, whereas X and Y chromosomes are present in male.
‡ During spermatogenesis males produce 2 types of gametes i.e., 50 % with X-chromosome and 50 % with
Y-chromosome.
‡ Females produce only ovum with an X-chromosome.
‡ There is an equal probability of fertilization of the ovum with the sperm carrying either X or Y chromosome.
‡ The sperm determines whether the offspring will be male or female.
(ii) Environmental Sex-determination : Determination of sex depends upon the environmental condition. The
environmental factors like temperature etc. determine whether the zygote will develop into male or female. e.g.
turtles and crocodile.
(iii) Genetic balance mechanism of sex determination : Sex of the individual is decided by the ratio of X-chromosome
and autosome as is found in Drosophila.
(iv) Cytoplasmic Sex-determination : Cytoplasmic or fertility factor called as F+ factor located in plasmid determines
the sex as in found is some bacteria.
¾Mutation

am
‡ It is a sudden heritable change in DNA sequences resulting in changes in the genotype and the phenotype of
an organism. The term mutation was given by Hugo de vries (1901).

gr
‡ It is caused either by loss or gain or change in a single base pair of DNA.
‡ Frame-shift mutation : Loss (deletions) or gain (insertion/ duplication) in DNA segment so that the whole

le
frame of codons is changed.

te
‡ Point mutation : Mutation due to change in a single base pair of DNA. e.g. sickle cell anaemia.
‡ Mutation results in Chromosomal abnormalities (aberrations).
al
‡ Chromosomal aberrations are seen in cancer cells.
ci

‡ Mutagens (agents which induce mutation) include,

fi

(a) Physical mutagens: UV radiation, _, `, a rays, X-ray, etc.

of

(b) Chemical mutagens: Mustard gas, phenol, formalin, etc.

¾ Pedigree Analysis
a_

‡ The representation or chart showing family history is called family tree (pedigree).
‡ Thus, analysis of traits in several generations of a family is called pedigree analysis.
Sh

‡ In humans, control crosses are not possible.

‡ So, the study of family history about inheritance is used.
et

‡ In human genetics, pedigree study is utilized to trace the inheritance of a specific trait, abnormality or disease.
ik

¾ Genetic Disorders
An

‡ There are two types of genetic disorders namely, Mendelian disorders and Chromosomal disorders.
(1)Mendelian Disorders
‡ It is caused by alteration or mutation in the single gene.
‡ The pattern of inheritance of Mendelian disorders can be traced in a family by the pedigree analysis.
e.g. Haemophilia, Cystic fibrosis, Sickle-cell anaemia, Colour blindness, Phenylketonuria, Thalassemia, etc.
‡ Mendelian disorders may be dominant or recessive.
‡ By pedigree analysis one can easily understand whether the trait is dominant or recessive.
¾Pedigree Analysis of Autosomal Dominant Trait e.g. – Myotonic dystrophy
(a) Myotonic Dystrophy
‡ It is an autosomal dominant disorder which is characterized by increasing contractility of muscles with
decreasing relaxation. This leads to atrophy of muscles particularly of face and neck. Hypogonadism,
balding and cardiac irregularities may also be caused due to this disorder.
¾Pedigree Analysis of Autosomal Recessive Trait e.g. – Sickle cell anaemia
(a)Sickle-cell Anaemia
‡ This is an autosome linked recessive trait.
‡ It can be transmitted from parents to the offspring when both the partners are carrier for the gene (or
heterozygous).
‡ The disease is controlled by a pair of allele, HbA and HbS.
‡ Homozygous dominant (HbAHbA) : normal Heterozygous (HbAHbS): carrier; sickle cell trait Homozygous
recessive (HbSHbS) : affected
116 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

‡ The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the
`-globin chain of the haemoglobin (Hb).
‡ This is due to the single base substitution at the sixth codon of the `-globin gene from GAG to GUG.
‡ The mutant Hb molecule undergoes polymerization under low oxygen tension causing the change in
shape of the RBC from biconcave disc to elongated sickle like structure.
 (b)Haemophilia (Royal disease)
‡ Sex linked recessive disease.
‡ In this, a protein involved in the blood clotting is affected.
‡ A simple cut results in non-stop bleeding.
‡ The heterozygous female (carrier) for haemophilia may transmit the disease to sons.
‡ The possibility of a female becoming a haemophilic is very rare because mother has to be at least carrier
and father should be haemophilic (unavailable in the later stage of life).
‡ Queen Victoria was a carrier of the disease. So her family pedigree shows a number of haemophilic
descendents.
(c)Phenylketonuria
‡ An inborn error of metabolism.

am
‡ Autosomal recessive trait.
‡ The affected individual lacks an enzyme (phenylalanine hydroxylase) that converts the amino acid

gr
phenylalanine into tyrosine.

le
‡ As a result, phenylalanine accumulates and converts into phenyl pyruvic acid and other derivatives.
‡ They accumulate in brain resulting in mental retardation.
te
‡ These are also excreted through urine because of poor absorption by kidney.
al
(2) Chromosomal Disorders
‡ They are caused due to absence or excess or abnormal arrangement of one or more chromosomes.
ci

‡ These are of two types namely,

fi

(a) Aneuploidy (b) Euploidy.

of

(a)Aneuploidy
a_

‡ The gain or loss of chromosomes due to failure of segregation of chromatids during cell division.
It includes,
Sh

(a) Nullisomy (2n-2): A complete homologous pair is lost from diploid set.
(b) Monosomy (2n-1): One chromosome is lost from diploid set.
et

(c) Trisomy (2n+1): One chromosome is added to diploid set, so that one chromosome occurs in triplicate.
ik

(d) Tetrasomy (2n+2): 2 chromosomes are added to diploid set, so that a chromosome is found in quadripulate.
An

(b) Polyploidy (Euploidy)

‡ It is an increase in number of chromosomes sets beyond diploid X condition (2n).
‡ This is often seen in plants.
‡ On the basis of number of chromosome sets, the polyploids are of following types : triploids (3n), tetraploids
(4n), pentaploids (5n), hexaploids (6n), etc.
(a) Autopolyploidy : It is an increase in number of the same genome. e.g. AAA (autotriploid), AAAA
(autotetraploid), etc.
(b) Allopolyploidy : It is the increase in number of sets of chromosome due to coming together of diploid
genomes of two or more than two individuals of different species. e.g. AABB, AABBDD. Bread wheat
is allohexaploid (AABBDD). Triticale is the man made cereal formed by hybridization between durum
wheat and rye. It is allohexaploid.
‡ Autoallopolyploidy : It is a kind of polyploidy where the genomes of two species come together in which one
has double set of chromosomes. e.g. Helianthus tuberosus which is autoallohexaploid.
‡ Chromosomal aberrations : These are the changes in morphology and structure of chromosome resulting in
the change in number and sequence of genes on them without any change in ploidy. They are of following
types :
1. Deletion : It is the loss of a terminal segment of a chromosome or from within the a chromosome
(interstitial segment) followed by reunion of its remaining parts.
2. Inversion : It is a change in a chromosome architecture due to breaking up, rotation through 180° of a
segment and its reunion so that sequence of genes is reversed in the inverted region.
PRINCIPLES OF INHERITANCE AND VARIATION [ 117
3. Duplication : It is a change in chromosome structure in which a part of chromosome breaks up and
unites with another homologous chromosome. This process repeats the chromosome segments because
the same block of genes is present more than once in a haploid component.
4. Translocation : It is a change in chromosome architecture which is due to breaking up of segment of
chromosome and its union with another non-homologous chromosome. It may also be due to mutual
exchange of chromosomal segments between non-homologous chromosomes.
¾Examples for Chromosomal Disorders
(a) Down’s Syndrome (Mongolism) :
‡ It is the presence of an additional copy of chromosome number 21 (trisomy of 21).
‡ Genetic constitution : 45 A + XX or 45 A + XY (i.e. 47 chromosomes).
‡ Features :
(a) They are short statured with small round head.
(b) Broad flat face.
(c) Furrowed big tongue and partially open mouth.
(d) Many “loops” on finger tips.
(e) Palm is broad with characteristic palm crease.

am
(f) Retarded physical, psychomotor & mental development.
(g) Congenital heart disease.

gr
(b) Klinefelter’s Syndrome :

le
‡ It is the presence of an additional copy of X-chromosome in male.
‡ Genetic constitution: 44 A + XXY (i.e. 47 chromosomes).
‡ Features : te
al
(a) Overall masculine development however the feminine development is also expressed. e.g. development
of breast (Gynaecomastia).
ci

(b) Sterile.
fi

(c) Mentally retarded.

of

(c) Turner’s Syndrome :

a_

‡ This is due to the absence of one of the X chromosomes in female.

‡ Genetic constitution: 44 A + XO (i.e. 45 chromosomes).
Sh

‡ Features :
(a) Sterile, Ovaries are rudimentary.
et

(b) Lack of other secondary sexual characters.

ik

(c) Dwarf.
An

(d) Mentally retarded.

Very Short Answer Type Questions (1 mark each)

Q. 1. A male honeybee has 16 chromosomes whereas its

female has 32 chromosomes. Give one reason.
Answering Tip
A [Outside Delhi Set-I, 2016] z Carefully understand the process of sex
determination in honey bees, Drosophila and
Ans. Male honey bee develops from unfertilized female
humans. Don't get confused between the three.
gamete/unfertilised egg/ Parthenogenesis of
female gamete (16 chromosomes), female develops
by fertilization/fertilised egg. (32 chromosomes). Commonly Made Error
[CBSE Marking Scheme, 2016] ½ + ½ z Mostly students did not understand the concept of
haploid and diploid.
Detailed Answer :
Q. 2. Give an example of a human disorder that is
Male honey bees are borne from the unfertilised eggs
by the process known as parthenogenesis whereas caused due to a single gene mutation.
female honeybees are borne from fertilised egg. A [Delhi Set-II, 2016]
Since, unfertilised egg carries only half the number
of chromosomes as compared to fertilised egg, male Ans. Sickle cell anaemia/Thalassemia/Phenylketonuria.
honeybees have half the number of chromosomes [CBSE Marking Scheme, 2016] 1
(n) as compared to female honey bee (2n).
118 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Commonly Made Error Answering Tip

z Spelling error is commonly seen. Learn spellings of z Make sure, you are thorough about the concept of
disorder carefully. sex chromosomes in various animals.
Q. 3. What is point mutation? Give one example. Q. 8. Give an example of an organism that exhibits
R [(KVS, NCERT) Foreign Set-I,2016] haplodiploid sex-determination system.
A [Outside Delhi Set-II, Comptt. 2016]
Ans. Arising due to change in a single base pair of
DNA, sickle cell anaemia. 1 Ans. Honey bees.
[CBSE Marking Scheme, 2016] [CBSE Marking Scheme, 2016] 1
Detailed Answer : Q. 9. Give one example of organism exhibiting female
Point mutation is a gene mutation, which arises due heterogamety.
to a change in a single base pair of DNA. e.g. sickle A [Outside Delhi, Set-III, Comptt. 2016]
cell anaemia. Ans. In many birds (ZZ / ZW)
Q. 4. What is a Mutagen? Name a physical factor that Male / female/heterogamety 1
can be a Mutagen. R [Foreign Set-II, 2016] [CBSE Marking Scheme, 2016]
Ans. All the physical and chemical factors that induce Detailed Answer :

am
mutation, UV radiation/X rays. 1 Birds show female heterogamety as the female
[CBSE Marking Scheme, 2016] birds produce two different type of ova i.e. (A+Z)
Detailed Answer : and (A + W) whereas male produces only one type

gr
All the physical and chemical factors that induce of sperms. 1

le
mutation are called mutagens. Q. 10. Indiscriminate diagnostic practices using
The physical factors which can be a mutagen are the X-rays etc., should be avoided. Give one
ionizing radiations like X-rays, gamma rays & the
non-ionizing radiations like ultraviolet rays.
te reason.
A [Delhi, Set-III, 2015]
al
Q. 5. Mention two causes of frame-shift Mutation. Ans. Indiscriminate diagnostic practices using X-rays,
ci

R [Foreign Set-III, 2016] gamma rays etc. are ionizing radiations which
usually produce breaks in the chromosomes and
fi

Ans. Insertion, deletion of three bases/one codon or chromatids and abnormal mitosis in the irradiated
of

multiple of three bases/multiple codon (hence cells. They cause abnormal functioning of the cells,
one or more amino acid) (reading frame remains
a_

mutations resulting in the development of various

unaltered from that point onwards) 1 types of cancers specially blood cancer or leukemia
Sh

[CBSE Marking Scheme, 2016] etc. 1

Detailed Answer : Q. 11. State the chromosomal defects in individuals with
et

Frame-shift mutations are caused by addition or Turner’s syndrome. U [Delhi Set-I, Comptt. 2015]
deletion of nitrogenous bases in the DNA or mRNA.
Ans. Monosomy of sex chromosome/XO condition/
ik

These mutations are so called because these shift

Absence of one X chromosome (in female). 1
the reading frame of codons from the site of change
An

onwards. Deletion involves the loss of one or more [CBSE Marking Scheme, 2015]
nucleotides while addition or insertion involves Q. 12. Write the chromosomal defect in individuals
the addition of one or more extra nucleotides in affected with Klinefelter’s syndrome.
the DNA molecule resulting in shift in reading the R [Outside Delhi Set-I, Comptt. 2015]
frame of codons. Ans. Male - Additional copy of X chromosome / XXY. 1
Commonly Made Error [CBSE Marking Scheme 2015]
z Students often write definition instead of causes of Q. 13. On what basis is the skin colour in humans
frameshift mutation. considered polygenic ?
Q. 6. Give an example of a sex-linked recessive disorder R [Outside Delhi Set-III, Comptt. 2015]
in humans. A [Delhi Set-II, Comptt. 2016] Ans. Controlled by more than one gene, cumulative
Ans. Colour blindness. 1 and additive effect of genes. 1
Q. 7. Write the chromosomal basis of sex determination [CBSE Marking Scheme, 2015]
in birds. R [Outside Delhi Set-I, Comptt. 2016] Q. 14. How many chromosomes do drones of honeybee
possess ? Name the type of cell division involved
Ans. (Male) ZZ in the production of sperms by them.
+ (Female)ZW/Heterogamety 1 U [Outside Delhi Set-I, 2015]
[CBSE Marking Scheme, 2016]
Ans. 16, Mitosis. [CBSE Marking Scheme, 2015] ½+½
Commonly Made Error Q. 15. Give an example of a chromosomal disorder
z Students often get confused between the combination caused due to non-disjunction of autosomes.
of sex chromosomes in male and female. A [CBSE SQP, 2015]
PRINCIPLES OF INHERITANCE AND VARIATION [ 119
Ans. Down’s syndrome. 1 Ans. Father - XY, Mother - XXC ½+½
[CBSE Marking Scheme, 2015] [CBSE Marking Scheme, 2017]
Q. 16. Why do normal red blood cells become elongated
Q. 22. Mention the combination (s) of sex
sickle shaped structures in a person suffering from
chromosomes in a male and a female bird.
sickle cell anaemia?
A [Foreign Set - I, 2017]
U [Delhi Set-II, III, 2014]
Ans. Male - ZZ, Female - ZW ½+½
Ans. The mutant haemoglobin molecule (substitution [CBSE Marking Scheme, 2017]
of Glutamic acid by valine) undergoes poly-
merization, under low oxygen tension causing the Detailed Answer :
change. ½+½ The type of sex chromosomes in a female bird is ZW
[CBSE Marking Scheme, 2014] and in case of male bird is ZZ.
Detailed Answer : Q. 23. State the fate of a pair of autosomes during gamete
The defect is caused by the substitution of Glutamic formation. A [Delhi 2017, Set - I, II, III]
acid (Glu) by Valine (Val) at the sixth position of Ans. Segregate / separate 1
the beta globin chain of the haemoglobin molecule. [CBSE Marking Scheme, 2017]
The substitution of amino acid in the globin protein

am
results due to the single base substitution at the sixth Detailed Answer :
codon of the beta globin gene from GAG to GUG. During gamete formation, a diploid germinal

gr
The mutant haemoglobin molecule undergoes cell changes to a haploid germ cell. Hence, a pair
polymerisation under low oxygen tension causing of autosomes get segregated by means of meiotic

le
the change in the shape of the RBC from biconcave division to produce haploid gametes.
disc to elongated sickle like structure. 1
Q. 17. Name one autosomal dominant and one autosomal te
Q. 24. Name the disorder caused due to the absence of
one of the X-chromosomes in a human female.
al
recessive Mendelian disorder in humans.
A [Delhi Comptt. 2017, Set - I, II]
ci

R [Outside Delhi Set-I, 2010]

Ans. Turner's syndrome
fi

Ans. Autosomal dominant — Myotonic dystrophy ½ [CBSE Marking Scheme 2017] 1

of

Autosomal recessive — Phenylketonuria / sickle

Detailed Answer :
cell anaemia / cystic fibrosis / Thalassaemia. ½
a_

[CBSE Marking Scheme, 2010] A syndrome that occur due to monosomy is called
turner's syndrome. It occurs due to union of an
Sh

Q. 18. The son of a haemophilic man does not get this allosome free egg (22 + 0) and a normal X sperm or
genetic disorder. Mention the reason. a normal egg and an allosome free sperm (22 + 0).
et

A [Delhi Set-I, Comptt. 2010] The individual has 2n = 45 chromosomes (44 + XO)
instead of 46.
Ans. The son gets Y chromosome from the father and
ik

X chromosome from the mother. Therefore, as the Q.25. Write the sex of a human having XXY chromosomes
An

gene for haemophilia is located on X chromosome, with 22 pairs of autosomes. Name the disorder this
a son cannot get the disease from his father. 1 human suffers from.

Q. 19. What is the difference in the amino-acid R [CBSE, Comptt Set 1, 2018]
sequence in the B-chain of haemoglobin in Ans. Male, Klinefelter’s syndrome ½+½
a normal person and a sickle-cell anaemia
[CBSE Marking Scheme, 2018]
person ? U [Delhi Set-III, Comptt. 2010]
Ans. In a person suffering from sickle-cell anaemia, the Commonly Made Error
amino acid glutamine present at the sixth position,
z Students get confused between the genetic
is replaced by the valine. 1 constitution of Down's syndrome, Klinefelter's
Q. 20. What is the cause of Down’s syndrome in humans ? syndrome and Turner's syndrome. Students often
write opposite answers.
R [Outside Delhi Set-I, Comptt. 2010]
Ans. This syndrome develops due to trisomy of Answering Tip
chromosome 21. The non-disjunction of the 21
z Understand all three disorders- Down's syndrome,
chromosome during meiosis causes the trisomy of
Klinefelter's syndrome and Turner's syndrome,
21st chromosome and results in Down’s syndrome. 1
separately with relevant examples. Emphasize on
Q. 21. A colour blind boy is born to a couple with a operative terms.
normal colour vision. Write the genotype of the
parents. Q. 26. Observe the pedigree chart and answer the
following questions :
R [Outside Delhi Comptt. - 2017, Set - I, II, III]
120 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Answering Tip
z Learn symbols used in pedigree chart to analyse it.
Q. 27. The prophase I stage of meiosis plays a vital role
in r-DNA formation. Justify with reason.
A [CBSE SQP, 2018]
Ans. The prophase I stage of meiosis plays vital role in
r-DNA formation because crossing over occurs at
this stage, which helps in recombination.
(i) Identify whether the trait is sex-linked or
autosomal. [CBSE Marking Scheme, 2018]
(ii) Give an example of a disease in human beings
which shows such a pattern of inheritance. Q. 28. Write the genotype of (i) an individual who
is carrier of sickle cell anaemia gene but
R [CBSE SQP 2015] (KVS)
apparently unaffected and (ii) an individual
Ans. (i) Sex-linked. affected with the disease.
(ii) Haemophilia/colour blindness. ½+½ U [Outside Delhi, 2016]
[CBSE Marking Scheme, 2015] Ans. (i) HbA, HbS

am
(ii) HbS HbS ½+½
Commonly Made Error
z Students are unable to understand the pedigree

gr
chart. It seems they are unaware about the symbols
used in it.

le
Short Answer Type Questions-I
te (2 marks each)
al
ci

Q. 1. Differentiate between ‘ZZ’ and ‘XY’ type of sex- chromosome. The females have homomorphic sex
fi

determination mechanisms. U [Delhi Set-III, 2015] chromosome (XX) and homogametic i.e. produce
of

Ans. ZZ type of sex determination mechanism is found only one type of eggs. The sex of the offspring
in birds, reptiles and fishes. In this type, the females is determined by type of sperm taking part in
a_

have heteromorphic sex chromosomes (ZW), fertilization. 2

while males have homomorphic sex-chromosomes Q. 2. What happens when chromatids fail to segregate
Sh

(ZZ). Females are heterogametic i.e. produce two during cell division cycle ? Explain your answer
dissimilar types of eggs while males produce only with an example.
et

one type of sperms. The egg determines the sex of A [Outside Delhi Set - I, II, III (Comptt. 2017)]
the individual. Ans. Failure of segregation of chromatids during
ik

XY type of sex determination mechanism is found cell division cycle results in the gain or loss of
An

in human beings. In this type, the male individuals chromosome / called aneuploidy e.g., Downs'
have heteromorphic sex chromosomes (XY) and syndrome results in the gain of extra copy of
are therefore heterogametic i.e. producing two chromosome 21 / Turner's syndrome results due to
types of sperms are with X and the other carrying Y loss of an X-chromosome in human female. 1 + 1
Q. 3. Is haemophilia in humans a sex linked or autosomal disorder ? Work out a cross in support of your answer.
A [Outside Delhi Set-I, Comptt. 2016]
Ans. Haemophilia in humans is a sex linked disorder.
PRINCIPLES OF INHERITANCE AND VARIATION [ 121
(any one incorrect genotype or phenotype-no marks)
//
Cross showing haemophilic father and normal mother

[CBSE Marking Scheme, 2016] 2

Answering Tip Answering Tip

Graphic representations should be in the proper Practice drawing different crosses with proper

am
z z
sequence. Write correct genotype and phenotype in understanding. Make sure you label all the
the cross, otherwise this may deduct your marks. genotypes and phenotypes correctly.

gr
Q. 4. Which chromosomes carry the mutant genes Q. 6. A haemophilic father can never pass the gene for
causing thalassaemia in humans ? What are the haemophilia to his son. Explain.

le
problems caused by these mutant genes ? R [CBSE, Comptt, Set 1, 2018]
R [Delhi Set-II, Comptt. 2015]
Ans. 11th and 16th chromosomes carry the mutant gene
te
Ans. It is a sex linked recessive disorder in which
X-chromosome has the haemophilic gene. Son
al
causing thalassaemia. inherits a Y chromosome from father and gene for
haemophilia is not present on Y chromosome.
ci

These cause the formation of abnormal

haemoglobin molecules resulting into anaemia. 1+1
fi
of

[CBSE Marking Scheme, 2015] 1+1 [CBSE Marking Scheme, 2018]

Q. 5. Why is the possibility of human female suffering
a_

Q. 7. This is the pedigree of a family tracing the

from haemophilia rare ? Explain. movement of the gene for haemophilia. Explain
Sh

R [Delhi Set-II, 2014] the pattern of inheritance of the disease in the

family. E & A [Delhi Set-I, Comptt. 2013]
Ans. ½
et
ik
An

½
Rare because mother should be atleast carrier and
Ans. In the given pedigree of a family, a normal female
father haemophilic (non viable at later stage). 1
is crossed with a haemophilic male. The offspring
[CBSE Marking Scheme, 2014] generated are carrier females as haemophilia
Detailed Answer : is an X-linked disease and female has two X
chromosomes. These carrier females when crossed
Haemophilic females can be produced only
with normal males produced carrier females and
in the homozygous condition i.e. when the
haemophilic males.
genes for haemophilia are present on both of
the X chromosomes (XhXh). Marriage between XX Xh Y
a haemophilic man (XhY) and carrier woman Normal Haemophilic
(XhX) will produce haemophilic female (XhXh) Female Male
but however this condition is lethal and therefore
haemophilic female dies in the foetus state. Thus, X hX X hX
the possibility of human female suffering from Carrier Female Carrier Female
haemophilia is rare.
XhX XY Xh X XY
Commonly Made Error
z Many students fail to draw the correct cross. XhY Xh X or XX
They forget to mention the correct genotype and Haemophilic Male Carrier or normal female 2
phenotype in the cross, which may deduct their
marks. Q. 8. A non-haemophilic couple was informed by their
doctor that there is possibility of a haemophilic
122 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

child be born to them. Draw a checker board and of an example each involving (i) autosomes, and
find out the percentage of possibility of such child (ii) sex chromosomes.
in the progeny.
R [Foreign Set - I, II, 2017]
A [CBSE SQP, 2013, 2012] Ans. Gain or loss of a chromosome (due to non
disjunction) 1
+ X Y (i) Down Syndrome - Additional copy of 21st
Ans. chromosome / trisomy of 21. ½+½
X XX XY
(ii) Klinefelter’s Syndrome - presence of an
additional copy of X chromosome leading to
Xh X Xh X hY
XXY. Turner’s Syndrome - absence of one of
the X chromosome i.e., 44 with XO ½+½
Phenotypes : 50% daughter normal (XX) [CBSE Marking Scheme, 2017]
50% daughter carrier (XXh)
50% son normal (XY)
Answering Tip
z Learn the genetic constitution and features of
50% son haemophilic (XhY) 2 all chromosomal disorders (Down's syndrome,
[CBSE Marking Scheme, 2010] Klinefelter's syndrome and Turner's syndrome)

am
thoroughly.
Q. 9. (i) Why are grasshopper and Drosophila said to
show male heterogamety ? Explain. Q. 11. During a cytological study conducted on the

gr
chromosomes of the insects, it was observed that
(ii) Explain female heterogamety with the help of
only 50% of the sperms had a specific structure

le
an example. after spermatogenesis. Name the struture and
U [Outside Delhi Set-I, 2010]

Ans. (i) In grasshopper, males have one X only (XO

tewrite its significance in sex determination of
insects. R [CBSE SQP, 2017]
al
Ans. X body / X factor / X chromosome.
type), in Drosophila males have one X and one
In insects the sex chromosome consists of XX
ci

Y (XY type) - Males in both cases produce 2

different kinds of gametes so heterogametic. female; XO-Males 1+1
fi

[CBSE Marking Scheme, 2017]

of

½+½
(ii) In birds female has ZW, produce two kinds of
a_

Detailed Answer :
gametes and so heterogametic. ½+½
The specific structure is X chromosome or X factor
Sh

OR or X body.
(i) Male heterogamety, Grasshopper. ½+½ In insects, all eggs bear additional X chromosome.
et

Male have only one X chromosome besides

(ii) Female heterogamety, Birds. ½+½
autosomes where as females have a pair of X
ik

[CBSE Marking Scheme, 2010] chromosomes e.g., grasshopper.

An

Detailed Answer : Q. 12. Why is pedigree analysis done in the study of

(i) In grasshoppers, there is XX—XO type of human genetics ? State the conclusions that can be
sex determination. Males have only one sex drawn from it. U [Delhi Set-II, 2014]
chromosome and therefore produce two types
of male gametes : one with X chromosome (A + Ans. (i) Control crosses are not possible in case of
X) and the other without sex chromosome (A + humans beings. 1
O), thus shows heterogamety. (ii) Analysis of traits in several generations of
family / To trace pattern of inheritance /
In Drosophila, there are two sex chromosomes
whether the trait is dominant or recessive / sex
(XY) in males which are heteromorphic and
linked or not. 1
therefore two types of male gametes : one with
X chromosome (A + X) and another with Y [CBSE Marking Scheme, 2014]
chromosome (A + Y). Detailed Answer :
(ii) Production of dissimilar types of gametes by
(i) This is because control crosses are not possible
females is called as female heterogametic. It
in case of humans beings.
is usually found when the sex chromosomes
are heteromorphic. In female bird, the sex (ii) (a) Traits can be analysed for several generations.
chromosomes are ZW and produce two types
gametes (A + Z) and (A + W), thus showing (b) Pattern of inheritance can be traced.
heterogamety. (c) To trace whether the trait is dominant or
Q. 10. Explain the cause of chromosomal disorders. recessive or sex-linked or not. 2
Describe the effect of such disorders with the help
PRINCIPLES OF INHERITANCE AND VARIATION [ 123

Short Answer Type Questions-II (3 marks each)

Q. 1. Give an example of an autosomal recessive trait

in humans. Explain its pattern of inheritance with
the help of a cross. A [Delhi Set-I, 2016]
Ans. Sickle cell anaemia is an example of autosomal
recessive trait in humans.

Q. 3. Write the type and location of the gene causing

thalassaemia in humans. State the cause and
symptoms of the disease. How is sickle cell
anaemia different from this disease ?
R [Delhi Set-III, 2014]
Ans. (i) Autosomal, recessive gene, gene for alpha
thalassemia is on chromosome 16, for Beta

am
thalassemia it is on chromosome 11. 1
(ii) Cause of symptoms—Mutation or deletion of

gr
the gene / genes, resulting in reduced rate of
synthesis of one of the globin chains / alpha or

le
The disease is controlled by a single pair of allele beta chains). ½+½
HbA and HbS. The disease is only expressed if both
the copies are defective i.e. only when the autosomal te (iii) Thalassaemia is a quantitative problem of
too few globin molecules of haemoglobin,
al
recessive genes are present in homozygous
while sickle-cell is a qualitative problem
condition (HbSHbS). People with a single defective
ci

of synthesizing an incorrectly functioning

copy of the gene are clinically normal, however
globin. 1
fi

they act as carrier and can pass on the defective

of

gene to their next generations in the ratio of 1 : 2 : 1 [CBSE Marking Scheme, 2014]
as shown in the above cross. 2+1
a_

Q. 4. One of the twins born to parents having normal

Q. 2. A couple with normal vision bear a colour blind colour vision was colour blind whereas the other
child. Workout a cross to show how it is possible twin had normal vision. Work out the cross. Give
Sh

and mention the sex of the affected child. two reasons how it is possible.
A [Delhi Set-II, 2016]
et

A [Foreign Set - III, 2017]

Ans. x
ik

Ans.
An

½ × 5 = 2½
Affected child is male. ½
[CBSE Marking Scheme, 2016]
Detailed Answer : ½
Genes that lead to colour blindness located on
X-chromosome. ½
Gene is recessive and is suppressed in
heterozygous mother (female) but expressed in
male in single dose. ½
[CBSE Marking Scheme, 2017] 2 + ½ + ½ = 3

Q. 5. Both Haemophilia and Thalassemia are blood

related disorders in humans. Write their causes
and the difference between the two. Name the
category of genetic disorder they both come
under. U [Outside Delhi 2017, Set - I, II, III]
124 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, Biology, Class – XII

Ans. Sex linked recessive Autosomal recessive

Haemophilia Thalassemia disorder disorder
Single protein involved Defects in the synthe- Blood does not clot Results in anaemia
in the clotting of blood sis of globin leading to
is affected formation of abnor- Mendelian disorder  ½ × 6=3
mal haemeoglobin [CBSE Marking Scheme, 2017]

OR

am
gr
le
te
al
ci
ffi
_o
ha

tS
i ke
An

[Topper‘s Answer 2017]

Answering Tip Q.7 Explain the mechanism of ‘sex determination’

 Learn the differences in tabular form for better in birds. How does it differ from that of human
retention and understanding. beings?  U [Outside Delhi/Delhi, 2018]

Q. 6. Explain with the help of an example each– Male Ans.

and female heterogamety mechanisms of sex
determination. R [Delhi Comptt. Set - III]
Ans. Male produces 2 different types of gametes
XO - e.g. grasshopper.
XY - e.g. human, it is the type of sperm fertilising
the egg that determine the sex of the offspring.
 1+½
Female produces 2 different types of gametes.
ZW - eg. : Birds, it is the type of egg getting fertilised
with the sperm that determine the sex of the chick.
Birds : Female heterogamety / female produces (Z)
 1+½
 [CBSE Marking Scheme, 2017]
PRINCIPLES OF INHERITANCE AND VARIATION [ 125
types and (W) type of gametes ½ Answering Tip
Humans : Male heterogamety / male produces (X)
z Sex determination according to type of chromosomes
types and (Y) types of gametes ½ (XX/XY) and according to haplo-diploidy should be
[2+1=3 marks] discussed taking suitable examples.
[CBSE Marking Scheme, 2018]
Q. 8. Identify 'a', 'b', 'c', 'd', 'e' & 'f' in the table given below :
S. No. Syndrome Cause Characteristics of affected Sex
individual Male/ Female/ Both
1. Down's Trisomy 'a' (i) 'b'
of 21 (ii)
2. 'c' XXY Overall masculine 'd'
development
3. Turner's 44 with 'e' (i) 'f'
OX (ii)
R [Outside Delhi Set-II, 2014]
Ans. (a) Short statured / small round head / furrowed tongue / partially open mouth / palm is broad / physical
development retarded / psychomotor development retarded / mental development retarded. ½

am
(b) both / male and female ½
(c) Klinefelter's syndrome ½

gr
(d) male ½
(e) sterile ovaries / rudimentary ovaries, lack of secondary sexual characters. ½

le
(f) female. [CBSE Marking Scheme, 2014] ½
Q. 9. Why are human females rarely haemophilic ?
Explain. How do haemophilic patients suffer ? te
Ans. (i) This representation (HbA peptide) indicates a
normal human, because the glutamic acid in
al
U [Outside Delhi Set-I, II, III, 2013]
the sixth position is not substituted by Valine.
Ans. Haemophilia is a X-linked genetic disorder, which
ci

½+½
means that it shows criss cross inheritance. Like
(ii) The sufferer's RBCs become elongated and
fi

most recessive sex-linked X chromosome disorders,

sickle shaped as compared to the normal
of

haemophilia is more likely to occur in males

than females. This is because females have two X biconcave RBCs. 1
a_

chromosomes (XX), while males have only one (ii) Both males and females are likely to suffer
(XY), so the defective gene is guaranteed to manifest from the disease equally, as this is not a sex
Sh

in any male who carries it. A female having two linked disease. It is an autosomal linked
defective copies of the gene is very rare. recessive trait. ½+½
et

Haemophilia impairs the body’s ability to control [CBSE Marking Scheme, 2012]
blood clotting and coagulation. 2 + 1 Detailed Answer :
ik

Q. 10. Given below is the representation of amino acid (i) This micrograph representation (HbA peptide) is
An

composition of the relevant translated portion of of amino acid composition of a part of b-chain
b-chain of haemoglobin, related to the shape of of haemoglobin molecule of a normal human
human red blood cells. because the sixth codon of b-globin mRNA is
GAG and therefore there is glutamic acid at the
sixth position of b-globin chain.
(ii) The sufferer's RBCs get elongated and becomes
sickle shaped because this gene, if simulated
cause the haemoglobin molecule to undergo
polymerization due to oxygen tension resulting
in the change of shape of RBCs from concave
disc to elongated sickle like structure. Such RBCs
can not pass through narrow blood capillaries,
therefore they tend to slow down the blood
flow, clot, degenerate and thus causing sickle
(i) Is this representation indicating a normal human cell anaemia.
or a sufferer from certain genetic disease ? Give (iii) The males and females both are likely to suffer
reason in support of your answer. from this disorder or defect because this is not
(ii) What difference would be noticed in the phenotype a sex linked disorder. It is an autosomal linked
recessive disorder due to single base substitution
of the normal and the sufferer related to this gene ?
resulting in the change at the sixth codon of beta
(iii) Who are likely to suffer more from the defect globin chain from GAG to GUG resulting in the
related to the gene represented – the males, the substitution of glutamic acid to valine.
females or both males and females equally ? And
Q. 11. (i) Sickle cell anaemia in human is a result of point
why ? A [Delhi Set-I, 2012] mutation. Explain.
126 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

(ii) Write the genotypes of both the parents who have was married to a normal man, to their surprise,
produced a sickle celled anaemic offspring. the grandson was also haemophilic.
U [Delhi Set-I, II, III, 2011] (i) Represent this cross in the form of a pedigree
chart. Give the genotypes of the daughter and her
Ans. (i) Mutation arising due to change in single husband.
base pair of DNA, the defect is caused by the
(ii) Write the conclusion you draw from the inheritance
substitution of Glutamic acid (Glu) by Valine
pattern of this disease. E & A [Delhi Set-II, 2014]
(Val) at the sixth position of the beta globin
chain of the haemoglobin molecule. 2 Ans. (i) XY XXh
(ii) Father - HbA HbS, Mother - HbA HbS ½ + ½
(Both parents are heterozygous)
[CBSE Marking Scheme, 2011] XY (½)
Q. 12. (i) Name the genetic disorder in a human female
having 44 + XO karyotype. Mention the diagnostic
features of the disorder. XhY (½) XXh
(ii) Explain the cause of such chromosomal disorder.
R [Outside Delhi Comptt. 2011] XhY 1
Ans. (i) (a) Turner’s syndrome.

am
Construction of pedigree chart 1
(b) 44 with XO chromosomes — such females
(ii) Sex - linked recessive inheritance pattern 1
are sterile as ovaries are rudimentary. Other

gr
features include lack of other secondary [CBSE Marking Scheme, 2014]
sexual characters, short stature and under Detailed Answer :

le
developed feminine characters. (i) Genotype of daughter is XXh
(ii) Such a disorder is caused due to the absence of
one of X chromosomes. 2+1=3 te Genotype of her husband is XY
(ii) Conclusion drawn from the inheritance
al
Q. 13. If there is a history of haemophilia in the family, the pattern :
chances of male members becoming haemophilic (a) XXh females are carriers of haemophilia. They
ci

are more than that of the female. are not suffering from haemophilia but can pass
fi

(i) Why is it so ? on the gene Xh to offspring.

of

(ii) Write the symptoms of the disease. (b) XhY males suffer from haemophilia. They seldom
reach reproductive age.
a_

A [Outside Delhi Set-I, Comptt. 2015]

(c) XX females are normal.
Ans. (i) Defective gene is on X chromosome, in (d) XY males are normal too.
Sh

case the carrier female (mother) passes Xh (e) XhXh females die in embryonic stage.
to the son he suffers, if she passes Xh to the (f) Inheritance of haemophilia follows a criss-cross
et

daughter, she has the other X (from father) to pattern.

make it heterozygous so the daughters escape Q. 15. Study the given pedigree chart and answer the
ik

as carriers. questions that follow:

(ii) The blood does not clot in the affected person
An

after an injury or a small cut. 2+1=3

[CBSE Marking Scheme, 2015]
Detailed Answer :
(i) Haemophilia is a sex linked recessive trait. The
gene for this trait is located on X chromosome.
There are greater chances of males getting
haemophilic because the males have only one (a) Is the trait recessive or dominant?
X chromosome and haemophilic gene located (b) Is the trait sex-linked or autosomal?
on this chromosome (XhY) expresses itself. (c) Give the genotypes of the parents shown in
Human males are hemizygous. Therefore, XhY generation I and their third child shown in
would by haemophilic while XhX would not generation II and the first grandchild shown in
be haemophilic, she will be a carrier. If carrier generation III. E & A [CBSE SQP, 2018]
mother XhX passes Xh to son he would be
haemophilic but if she passes it to daughter Ans. (a) Dominant ½
and she has the other normal X from father, she (b) Autosomal. ½
escapes as carrier. (c) Genotype of parents in generation I – Female
(ii) In haemophilic person, the blood does not clot – aa and Male – Aa. ½+½
after injury due to the absence of blood clotting Genotype of third child in generation II - Aa.
factor. Genotype of first grandchild in generation III - Aa.
Q. 14. A cross between a normal couple resulted ½+½
in a son who was haemophilic and a normal [CBSE Marking Scheme, 2018]
daughter. In course of time, when the daughter
PRINCIPLES OF INHERITANCE AND VARIATION [ 127
Q. 16. Haemophilia is a sex linked recessive disorder of Cross :
humans. The pedigree chart given below shows Parents Normal male X
XY
Carrier female
XXh
the inheritance of Haemophilia in one family.
Study the pattern of inheritance and answer the
Gametes X Y X Xh
questions given.
(a) Give all the possible genotypes of the members 4,
5 and 6 in the pedigree chart.
(b) A blood test shows that the individual 14 is a XX XXh XX XhY
carrier of haemophilia. The member numbered 15 Normal daughter Carrier daughter Normal son Haemophilic son
25% 25% 25% 25%
has recently married the member numbered 14.
Q. 17. A haemophilic son was born to normal parents.
What is the probability that their first child will
Give the genotypes of parents and son.
be a haemophilic male? Show with the help of
 C [Delhi Comptt. 2009]
Punnett square.  C [CBSE SQP, 2018]
Ans. Father (A + XY)
Ans. (a) Genotypes of member 4 – XX or XXh  ½ Mother (A + XXh)
Genotypes of member 5 – XhY ½ Son (A + XhY)
Genotypes of member 6 – XY ½ (A = Autosomes which are 44 in number &

am
XY = Sex chromosomes). 3
1 2 Q. 18. Why is that the father never passes on the

gr
genes for haemophilia to his son ?
 R [Outside Delhi Set-III, 2012]

le
3 4 5 6 7 8 9
Ans. Haemophilia is a sex linked trait. The gene for

te it is located on X chromosome only. Since, father

contributes only Y chromosome to the son, he
never passes haemophilic gene to his son.  3
al
10 11 12 13 14 15
 he probability of first child to be a haemophilic
(b) T Q. 19. Why do normal RBCs become elongated sickle
ci

male is 25%. shaped structures in a person suffering from sickle

ffi

shaped anaemia. R [Foreign, 2014]

 1 mark for punnetts square + ½ for probability
Ans. Sickle cell anaemia is caused due to point
_o

[CBSE Marking Scheme, 2018]

mutation because of which in β-globulin chain of
Detailed Answer: haemoglobin molecule, the glutamic acid (Glu) is
ha

(a) Same as in marking scheme. replaced by valine. This results in oxygen stress.
(b) Probability of first child to be hemophilic male is Under this condition the RBCs loose their circular
tS

shape, polymerise and become elongated and sickle

25 %.
shaped. 3
i ke

Long Answer Type Questions

An

(5 marks each)

Q. 1. Aneuploidy of chromosomes in human beings (d) P hysical, psychomotor and mental

results in certain disorders. Draw out the development is retarded.  (Any two) ½ + ½
possibilities of the karyotype in common disorders
Klinefelter’s Syndrome: The affected individual is:
of this kind in human beings and its consequences
(a) A male with development of breast i.e.
in individuals.  R [CBSE, SQP, 2018]
Gynecomastia.
Ans. Down’s syndrome, Turner’s syndrome, (b) Such individuals are sterile.  ½+½
Klinefelter’s syndrome are the common examples Turner’s Syndrome: The affected individual
of Aneuploidy of chromosomes in human beings. shows following characters:
Down’s syndrome results in the gain of extra copy (a) Females are sterile as ovaries are rudimentary.
of chromosome 21- trisomy.  ½+½ (b) Lack of other secondary sexual characters.
Turner’s syndrome results due to loss of an X  ½+½
chromosome in human females- XO monosomy. [CBSE Marking Scheme, 2018]
 ½ Q. 2. (i) 
A couple with blood group ‘A’ and ‘B’
Klinefelter’s Syndrome is caused due to the respectively have a child with blood group ‘O’.
presence of an additional copy of X-chromosome Work out a cross to show how it is possible and
resulting into XXY condition.  ½ the probable blood groups that can be expected
Down’s Syndrome: The affected individual is: in their other off-springs.
(a) Short statured with small round head. (ii) Explain the genetic basis of blood groups in human
(b) Furrowed tongue and partially open mouth. population.
(c) Palm is broad with characteristic palm crease.  A [Outside Delhi Set-I, Comptt. 2016]
128 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Ans. (i) Father = IAi Commonly Made Error

Mother = IBi
z Most of the students just show the cross between
Child = ii
woman having blood group ‘B’ and man with
blood group ‘A’. Correct alleles were not given.
Many of them forget to mention the occurrence
of all the four blood groups in the progeny. Very
few students use the correct format to represent
the type of alleles. Instead of writing as IA, IB and
i, they write ‘alleles A, B and O’. Some students
Phenotypes of all offsprings = AB, B, A and O
show the possible combinations of alleles in the
blood group
progeny but forget to mention the corresponding
(ii) Genetic basis of blood group :
Three alleles of one gene/multiple alleles/gene IA, blood groups.
I B, i
A and B are co-dominant/expressed together. Answering Tip
IAIA , IA i A
z Discuss simple problems along with the explanation
IB IB , I B i B

am
of Punnett square. Teach the concept of multiple
IAIB AB allele with examples of blood groups and with
ii O alleles involved.

gr
3+2
[CBSE Marking Scheme, 2016]

le
te
Q. 3. Thalassemia and Haemophilia are both Mendelian disorders related to blood. Write the symptoms of the
diseases. Explain with the help of crosses the difference in the inheritance pattern of the two diseases.
U [Foreign Set-III, 2016]
al
Ans. Thalassemia- Anaemia
ci

Haemophilia-Non stop bleeding

fi

Haemophilia- Sex linked recessive disorder, is generally passed on from (carrier) mother to some of her sons/
of

from affected father to daughter (carrier).

X Xh x XY
a_

X Xh X Y h h
X X x X Y
X X x X Y
Sh

X Xh

X XX XXh
et

Y XY X hY XXh XY h
XXh XhY
ik

XX XY XX XY
normal normal Carrier Affected carrier normal carrier normal
An

female male female male female male female male

(Note : Any one cross, one mark to be given if the entire diagram (cross) is correct)
Thalassemia - Autosome linked recessive blood disease, inheritance is like Mendelian inheritance pattern.
T x T T x T x T
A A A A A A A A A A A A

T T AA AA T T T T TT T T
AA AA A AA A A A A A A AA A AA AA
Minor Minor Normal Normal All Minor Major Minor Minor Normal
1 : 1 1 : 2 : 1
Minor : Normal Major : Minor : Normal

[CBSE Marking Scheme, 2016] 5

Detailed Answer : causing thalassemia major. In heterozygous state
Difference in inheritance pattern : the adverse effect of thalassemia is minor. The trait
Haemophilia : It is a sex-linked (X-linked) recessive (Thalassemia) is inherited as autosomal recessive.
disorder, inherited from haemophilic father (XhY) This is found equally in both males and females.
or carrier mother (XhX). Females are haemophilic However the defective alleles for thalassemia in
only in homozygous double recessive state (XhXh) both males & females unlike haemophilia expresses
but such females die before birth. itself only when it is in homozygous condition. The
Thalassemia : It is caused by haemolytic anaemia.
heterozygotes for recessive trait remain unnoticed
It shows autosomal recessive pattern of inheritance
and is controlled by two pairs of alleles (HBA1 but act as heterozygous carriers.
& HBA2). The effect is more pronounced when Q. 4. (i) State the cause and symptoms of colour
the defective gene occur in homozygous state, blindness in humans.
PRINCIPLES OF INHERITANCE AND VARIATION [ 129
(ii) Statistical data has shown that 8% of the human mutation in a single gene. Their mode of inheritance
males are colour-blind whereas only 0.4% of follows the principles of Mendelian genetics.
females are colour-blind. Explain giving reasons Mendelian disorders can be :
how is it so. A [Foreign Set-II, 2015] (a) Autosomal dominant (muscular dystrophy)
(b) Autosomal recessive (thalassemia)
Ans. (i) Cause-sex-linked recessive disorder.
(c) Sex linked (haemophilia)
Symptoms-failure to discriminate between
Symptoms of thalassemia :
red and green colour. Thalassemia minor results only in mild anaemia,
(ii) Since males have only one X chromosome characterised by low haemoglobin level.
gene for colour blindness, if present in any Thalassemia major is also known as Cooley’s
one parent will always be expressed, whereas anaemia. In this disease, affected infants are normal
in female it will be expressed only if it is but as they reach 6 to 9 months of age, they develop
present on both the X chromosomes, when severe anaemia, skeletal deformities, jaundice,
both parents are carrying gene for colour fatigue etc.
blindness. 5 Symptoms of Haemophilia : Persons suffering
[CBSE Marking Scheme, 2015] from this disease does not develop a proper blood
Detailed Answer : clotting mechanism. A haemophilic patient suffers
(i) The colour blindness is due to recessive sex from non-stop bleeding even on a simple cut, which
linked disorder. In this disorder of vision the may lead to death.

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patient is unable to distinguish between red Patterns of inheritance of Thalassemia :
and green colour. The gene for colour blindness Pairs of alleles HbA and HbT controls the expression
is located on the X chromosome. of this disease.

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(ii) The colour blindness is found in about 8% of the Conditions for Thalasemia :
HbA and HbA: Normal

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males and only 0.4% of the females. The greater
HbA and HbT: Carrier
prevalence of the colour blindness in males is
due to the presence of only one X chromosome
and the hemizygous (X & Y) expression of the
te HbT and HbT : Diseased
Let us assume that parents are carriers of beta-
thalassemia.
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allele for colour blindness i.e. if gene for colour Parents:
blindness is present on X-chromosome of male
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HbAHbT × HbAHbT
then it will always express while in case of females Offsprings:
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the incidence of disease of colour blindness is HbAHbA HbAHbT HbAHbT HbTHbT

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possible only in homozygous condition (XCXC) (Normal) (Carrier) (Carrier) (Severe affected
i.e. if both the X-chromosomes carry the allele
a_

-Thalassemic)
(XCXC) for colour blindness. Occurrence of allele Patterns of inheritance of Haemophilia :
for colour blindness on one of the X chromosome It is X-linked genetic disorder. Compared to females,
Sh

makes the female a carrier XCX. males have higher chances of getting affected
Q. 5. (i) Why are thalassemia and haemophilia because females have XX chromosomes while males
et

categorized as Mendelian disorders ? Write have only one X with Y chromosomes. Thus, for a
the symptoms of these diseases. Explain their female to get affected by haemophilia, she has to
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pattern of inheritance in humans. have the mutant gene on both the X-chromosomes
An

(ii) Write the genotypes of the normal parents while males can be affected if they carry it on the
producing a haemophilic son. single X-chromosome.
U [Outside Delhi Set-I, 2015] Conditions for haemophilia :
XX, XX - Normal
Ans. (i) Both are caused due to alteration/mutation, in XhY - Haemophilic
a single gene and follow Mendelian pattern of XhX - Carrier
inheritance. ½×2 XhXh-Haemophilic
Symptoms Let us assume that a carrier female (XhX) is married
Thalassemia-anaemia (caused due to to a normal male :
defective/abnormal Hb). Parents : XY (Male) XhX (Female)
Haemophilia-non stop bleeding even in Offspring :
minor injury. ½×2 XhX XX X hY XY
Pattern of inheritance (Carrier (Normal (Haemophilic (Normal
Thalassemia-autosomal recessive inheritance female) female) Male) Male)
pattern, inherited from heterozygous/parent (ii) When normal male marries a carrier female (she is
carrier. ½×2 considered normal as she contains the mutant gene
Haemophilia-X linked recessive inheritance, on one of her X-chromosomes), they can produce
inherited from a haemophilic father/carrier a haemophilic son. So, the genotype of the parents
mother (females are rarely haemophilic). would be XY and XhX.
½×2 Parents : XY (Father) × XhX (Mother)
(ii) XhX-Mother ½ Offspring :
XY-Father [CBSE Marking Scheme, 2015] ½ XhX XX X hY XY
Detailed Answer : (Carrier (Normal (Haemophilic (Normal
(i) Thalassemia and haemophilia are categorised female) female) Male) Male)
as Mendelian disorders because they occur by 5
130 ] Oswaal CBSE Chapterwise & Topicwise Question Bank, BIOLOGY, Class – XII

Answering Tip Ans. Thalassaemia is categorized as a Mendelian disorder

because it is determined by single allelic mutation.
z Illustrate by showing different examples of crosses It involves the genes HBA1 and HBA2, inherited in
between haemophilic and normal. Cite some a Mendelian recessive fashion.
examples of sex-linked inheritance. Also explain Symptoms : People with thalassaemia make less
why sex-linked characters are common in males. haemoglobin and less circulating red blood cells
Ask students to carry out crosses with different than normal human beings, which results in mild
combinations of sex linked diseases to write the or severe anaemia.
genotype and phenotype correctly. Cause : Both _ and `-thalassaemias are often
Q. 6. (i) How does a chromosomal disorder differ inherited in an autosomal recessive fashion,
from a Mendelian disorder ? although this is not always the case. Thalassaemias
(ii) Name any two chromosomal aberrations associated are a group of disorders caused by defects in the
disorders. synthesis of globin polypeptide. Absence or reduced
(iii) List the characteristics of the disorders mentioned synthesis of one of the globin chains results in an
above that help in their diagnosis. excess of the other. In this situation, free globin
chains, which are insoluble, accumulate inside the
U [Delhi Set-I, 2014]
red blood cells and form precipitates which damage
Ans. (i) Mendelian disorders are mainly determined the cells, causing cell lysis, resulting in anaemia.
by alteration or mutation in the single gene, There are two main types of thalassaemias in which
chromosomal disorders are due to absence / synthesis of _ or ` globin is defective.

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excess / abnormal arrangement of one or more In thalassaemia, patients have a deficiency of either
chromosomes. ½+½ _ or ` globin. But patients with sickle-cell anaemia
(ii) Turner's syndrome, Klinefelter's syndrome, have a specific mutant form of globin, causing

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Down's syndrome. (Name any two) 1+1=2 production of abnormal red blood cells. Sickle- cell
(iii) Turner's syndrome : Such a disorder is

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anaemia is caused by the mutant recessive allele on
caused due to the absence of one of the X chromosome 11. 1+1+2+1=5
chromosomes i.e. 44 with XO, Such females
are sterile as ovaries are rudimentary besides
other features including lack of other
te
Q. 8. (i) Why is haemophilia generally observed in
human males ? Explain the condition under
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which a human female can be haemophilic.
secondary sexual characters. (ii) A pregnant human female was advised to undergo
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Klinefelter’s syndrome : This genetic M.T.P. It was diagnosed by her doctor that the
disorder is also caused due to the presence
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foetus she is carrying has developed from a zygote

of an additional copy of X-chromosome
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formed by an XX-egg fertilized by Y-carrying

resulting into a karyotype of 47, XXY.
sperm. Why was she advised to undergo M.T.P. ?
Such an individual has overall masculine
a_

A [Delhi Set-I, 2011]

development, however, the feminine
development (development of breast i.e. Ans. (i) Haemophilia is caused due to the recessive
Sh

Gynaecomastia) is also expressed. Such gene on X chromosome. ½+½=1

individuals are sterile. Y has no allele for this / if a male is XhY then
Down’s syndrome : The cause of this genetic he is haemophilic / if male inherits Xh from the
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disorder is the presence of an additional copy mother he is haemophilic (with the genotype
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of the chromosome number 21 (trisomy of 21) XhY). 1

This disorder was first described by Langdon
If female inherits XhXh, one from the carrier
An

Down (1866).
mother and one from her haemophilic father
The affected individual is short statured
with small round head, furrowed tongue then she can be haemophilic. 1
and partially open mouth. Palm is broad (ii) Embryo has (trisomy of sex chromosome)
with characteristic palm crease. Physical, XXY / Klinefelter’s syndrome. 1
psychomotor and mental development is Advised MTP since child will have the
retarded. [CBSE Marking Scheme, 2014] 2 following problems :
Q. 7. Why is thalassaemia categorized as a Mendelian Male with feminine traits / like gynecomastia /
disorder ? Write the symptoms and explain the under developed testes / sterile. 1
causes of the disease. How does it differ from sickle- [CBSE Marking Scheme, 2011]
cell anaemia ? U [Delhi Set-III, Comptt. 2013]

Know the Terms

 ¾Alleles or allelomorphs : A pair of Mendelian factors or genes located on the same locus of two homologous
chromosomes of an individual which control the expression of a trait or character are called alleles or allelomorphs.
 ¾Back cross : Cross between hybrid and one of its parent.
 ¾Clone : The group of organisms produced by asexual reproduction. They are morphologically and genetically
similar to one another as well as their parents (The individuals of a clone are called Ramet).
 ¾Cross : Deliberate mating of two parental types of organisms of the same species.
 ¾Diploid : An individual or cell containing two complete sets of chromosomes.
 ¾Diplotene chromosomes : Lampbrush Chromosomes.
 ¾Dominant factor or allele : It is one of a pair of alleles which can express itself whether present in homozygous or
heterozygous state. e.g. T (tallness in pea), R (round seed in pea), A (axial flower in pea).
 ¾Dysgenics : Study of undesirable traits of human race and the genes that cause them.
PRINCIPLES OF INHERITANCE AND VARIATION [ 131
 F1 generation : Hybrids Produced from a cross between the genetically different individuals called parents. e.g. Tt
individuals are produced in F1 generation from a cross between TT and tt parents.
 F2 generation : It is the generation of individuals which arises as a result of interbreeding or selfing amongst
individuals of F1 generation.
 Father of genetics : Gregor Johann Mendel
 Felix Bernstein : Discovered multiple alleles, co-dominance and dominant recessive relationship in determination
of human blood groups.
 Gene locus : A particular portion or region of the chromosomes representing a single gene is called gene locus.
 Gene pool : Aggregate of all the genes and their alleles present in an interbreeding population is known as gene pool.
 Genetics (Gk. Genesis – origin) : It is a branch of biology that deals with the study of principles and mechanism
of heredity and variations. The term genetics was coined by Bateson (1906).
 Genome : It is a complete set of chromosomes where every gene/chromosome is represented singly as in a gamete.
 Genotype : (Gk. Geno- race; typos – image). It is the genetic constitution of individual with regard to one or more
characters irrespective that whether the genes are expressed or not, for e.g. genotype of hybrid tall pea plant is Tt,
pure tall TT and pure dwarf tt.
 Haploid (Monoploid) : An individual or cell containing a single complete set of chromosomes.
 Heredity (L. hereditas – heirship or inheritance) : It is the sum of all biological processes by which a particular
characteristics are passed on from parents to their offspring, either through asexual reproduction or sexual

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reproduction.
 Heterozygote (heterozygous) : It is an individual which contain the two contrasting factors of a character or two
different alleles of a gene on the same locus of its homologous chromosomes. It is not pure and is called hybrid

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for that character. e.g. Tt.
 Homozygote (homozygous) : It is an individual which contains identical alleles of a gene or factor of a character

le
on its homologous chromosomes. e.g. TT or tt.

heterozygote or heterozygous individuals. te

 Hybrid : The organisms produced after crossing two genetically different individuals is called hybrid. Also called

 Inheritance : Transmission of characters from parents to progeny.

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 Ishihara cards : Cards used for checking colour blindness.
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 Mendelian factor or gene : It is a unit of inheritance which passes from one generation to the next through the
gamete and controls the expression of a character in the organisms.
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 Phenotype : (Gk. Pheno – to appear, typos – image): It is observable or measurable distinctive structural or
_o

functional characteristic of an individual. e.g. phenotypic tall pea plant can be genotypically TT ot Tt.
 Punnett square (Checker board) : A grid that enables to calculate the results of simple genetic crosses.
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 Recessive factors or allele : The factor of an allelic or allelomorphic pair which is unable to express its effect in the
presence of its contrasting factor in a heterozygote is called recessive factor or allele. The effect of recessive factor
tS

becomes known only when it is present in the pure or homozygous state, e.g. tt in dwarf pea plant.
 Reciprocal cross : Cross which involves two types of individual where the male of one type is crossed with female
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of the second type and vice versa.

 Test cross : Cross to know whether an individual is homozygous or heterozygous for dominant characters. The
i

F1 individual is crossed with one of its recessive parent.

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 Trait : A phenotypic characteristic of an inherited character.

 Variation : Tendency of differences in various traits of individuals of a progeny from one another and their parents.
 W. Johannsen : Coined the term pure line (1903), gene (1909), genotype and phenotype.
 Wild and mutant alleles (wild and mutant phenotype) : Wild allele is one which is originally present in the
population and is dominant, usually widespread. Mutant allele is less common and is believed to be formed
through mutation of wild allele.
 Wild type : The species variety most commonly found in the natural population.

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