Biology

Class-XII
Chapter 5
Principles of Inheritance & Variation
Genetics :- It is a science dealing with principles and mechanism of biological inheritance.
It includes both Heredity and Variation.
Father of genetics – Mendel
Heredity :- (Inheritance) :- Transmission of characteristics, structural, functional and variations
from parents to progeny.
Term heredity is coined by bateson.

Genetic Terminology :-

1) Trait :- It is expression of morphological character.

Example – Tallness, dwarfness
2) Gene/unit factors :- It is a unit of inheritance which controls the trait.
3) Alleles :- Various form of gene present at same place on homologus chromosome
controlling the same character.
In common alleles represent different expressions of same character or pair
of opposite characters. Ex. – Tallness – TT, Tt, Dwarf ness – tt
Also called allelomorphs or allelomorphic pair.
4) Hybr id :- Male and female parent of different characters are fertilized to form the
offspring. This offspring called as hybrid and process is called as
hybridization.
5) Dominant factor :- It is a factor or allele of a character which expresses its effect in the
phenotype even in the presence of its alternate gene. It is
designated by capital letter Eg. – T, D, R etc.
6) Recessive factor :- It is a factor which is unable to express its effect in hybrid state but
can show its effect in presence of identical allele.
It is represented by small letter eg t, d, r etc.
7) Homozygous :- When a pair of same alleles of same character are present in zygote
then called as Homozygous. Eg. TT, RR, rr, tt.

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8) Heterozygous :- When a pair of contrasting alleles of same character are present in
zygote then it is called as Heterozygous which is also called as
Heterozygous.
9) Genome:- It is a set of Haploid chromosome which passes from one parent as a unit and
inherited by gamete.
10) Locus :- Site of a pene in a chromosome.
11) Hybrid vigour / Heterosis :- Superiority of off spring over it’s parent is called Heterosis.
12) Back cross:- It is a cross between the hybrid and one of its parents which can be
repeated two or more times for obtaining the maximum no. of traits of
that parent.

Test cross :-
It is a special type of back cross which is made between individual with a dominant
trait and its recessive parent in order to know that whether the individual is Homozygous or
Heterozygous for the trait.
Test cross – I :-

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Mendalism :- study of Mendel laws of heredity.
Mendel exper imental plant :-
Mendel works on garden pea – pisum sativum reason behind selection of the plant
are –
1) Plant had been in cultivation for long and possess large no. of varieties.
2) flowers are bisexual.
3) pure varieties (variety giving rise to similar plant) were available in the market.
4) Different type of seeds in plants are available and are obtained in large amount.
5) Plant do not require complicated method for cultivation .
6) It does not require much care.
7) Plants are annual had a short life cycle so results can be obtained with in a year.
8) Flowers are normally self pollinated but can be cross pollinated manually.

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 Contrasting traits studied by Mendel in a pea :

Contrasting Traits

Characters Dominant Recessive

1) Stem Height Tall (T) Dwarf (t)

2) Flower colour Violet/Red (R) White (r)

3) flower position/pod position Axial (A) Terminal (a)

4) pod shape Full/inflated (I) Constricted (i)

5) pod colour Green (G) Yellow (g)

6) seed shape Round (W) Wrinkled (w)

7) seed colour /cotytedon colour Yellow (y) Green (y)

Mendel’s laws were rediscovered by correns (Germany), Hugo De vries (Netherland), Eric
Von Trtiermak (Austria).
Mendel Law of Inheritance
Mendel’s law of inheritance is called as mendalism. It has 3 laws –
1) Law of segregation.
2) Law of Independent assortment.
3) Law of dominance.
Inher itance of One Gene
On the basis of Inheritance of one gene two laws are followed
1) Law of dominance
2) Law of segregation
Mendel’s Experiment :-
Mendel’s Experimented on pea plant. He does monohybrid and dihybrid cross on
that plant.

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Mono Hybrid cross :-
It is a type of cross in which plant of same type of single trait is taken & crossed with
each other to get hybrids in f1 and f2 genration.
Example - In this pea plant with a single trait with characterstic of height is taken & crossed
with each other to get hybrids. in f1 and f2 genration.

In f2 generation therefore phenotypic. Ratio is 3:1 ie; 3 of them are tall & 1 is dwarf.
Phenotype :- It is external appearance of an individual.
Genotype :- it is genetic composition of an individual.
Genotypic ratio :- 1:2:1
1 hybrid is tall with gene (TT)
2 hybrid is tall but gene (Tt)
1 hybrid is dwarf with gene (tt)
Explanation of result by Mendel and factor hypothesis :-
On the basis of monohybr id cross :-
1) Principal of unit characters :-
Each organism has large number of character which behaves as a unit and is
controlled by discrete units called as factors. ex.-height, skin colour
2) Pr inciple of paired factors :-
Each character in a individual is represented by two unit factors which is presently
called as alleles.

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I ) Law of DOMINACE :-
Out of the two contrasting allele factors only one expresses itself in an individual.
The factor which expresses itself is called as dominant while the other which is
unable to show its effect is called recessive factor.

I I ) Law of segregation an or law of pur ity of gametes :-

Acc to this law, f1 hybrid has both contrasting character in form of pair but these get
separated during gamete formation due to separation of homologus chromosome
during meiosis in f2 generation so called as law of segregation.
Punnet square :-
Results of monohybrid cross in f2 generation is given in a punnet square. It is a square
used to show the result of across between two organisms.
Impor tance of mendelism :-
1) Improvement of plant and animal hybr ids :-
It enables to get desired combination of character in one spp. & helps in plant breeding
to develop new & improved varieties of plants. In animals helps in improving the
races of domesticated animals. Also helps in improving the quality of milk, meat, egg
& other animal products.
It can be used in discovery of heredity disease & its cure.
Study of inheritance of blood group can solve the disputed parentage of child.
Incomplete dominance :-
It is discovered by correns.
It is the phenomenon in which a hybrid individual is unable to show its com
plete effect of dominant factor and therefore some effect of recessive factor is also
expressed. It is called incomplete dominance.
Example-Incomplete dominance in snapdragon (dog flower) & 4’0 clock (mirablis
jalapa) plant.

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In snap dragon or mirabilis plant when pure white flower & pure red flower are hybridized
then hybrid obtain in f1 generation is of pink flower.
Here pure white flower is represented by rr & red flower is represented by RR.
In f2 generation phenotypic & genotypic ratio of incomplete dominance in same (1:2:1)
1 – Red, 2 – Pink & 1- whiten flower

Co dominance :-
When both alleles shows their independent effect in f1 generation side by side without
mixing of characters then the phenomenon is called as co dominance.
Here the both phenotypic & genotypic ratios are same.
Example – co dominance of skin hair colour in cattle.

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Phenotypic & Genotypic Ratio – 1:2:1
Multiple Allelism and Codominance.
- A well-known example of these phenomen is the inheritance of ABO blood groups in
man.
- The gene for blood group exists in three alletic forms, IA, IB and i.
- Any individual carries two of these three alleles.
- The allele IA produces a glycoprotein A, found on the surface/ membrane of red
blood cells.
- The allele IB produces glycoprotein B, found on the surface/ membrane of red blood
cells.
- The allele i does not product any glycoprotein.
- The alleleA is dominant over i and the allele IB is also dominant over i.
- When the alleles IA and IB are together, they are equally dominant and both the
glycoproteins A and B are produced.
- The blood group is determined by the presence of absence of one or both the
glycoprotiens, i.e. group A has glycoprotein, A, group B has glycoprotein B, group
AB has both the glycoproteins white group O has neither of them.
- The following table shows the blood groups and their possible genotypes:

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 Blood group Possible genotypes
A IA IA or IA i
B IB IB Or IB i
AB IA IB
O ii

- The inheritance of blood group character follows mendelian pattern of inheritance.

Pleiotropy
- A single gene product may produce more than one effect.
- Even in garden peas, such a phenomenon has been observed in the following character.
(i) Starch synthesis/size of starch grains and the shape of seeds are controlled by one
gene.
(ii) Flower colour and seed coat colour are found to be controlled by the same gene.

Complementary genes.
- When two (non-allelic) genes complement the effect of each other to produce a
phenotype, they are called complementary genes.
- Flower colour in Lathyrus odoratus (sweet pea) is due to complementary genes,
where one gene complements the expression of another gene.
- The dominant allele P datermines the formation of purple colour, but PP or Pp does
not express the colour unless another dominant allele of a gene (CC or Cc) is present
along with them.
- A cross between a purple (PPCC) and white (ppcc) flowered plants produces an F2,
where the ratio between purple flowerd and white flowered plants is 9:7 (Instead of
the normal Mendelian ratio of 9 : 3 :3 : 1).

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 Purple flower White flower
Parents : PPCC ppcc
×
Gametes : PC pc

F1 generation PpCc Purple flower

Selfing of F1 Pp Cc × Pp Cc

Gametes : PC , Pc , pC , pc × PC , Pc , pC , pc

F2 generation

PC Pc pC Pc

PPCC PPCc PpCC PpCc

PC
Purple Purple Purple Purple

PPCc PPcc PpCc Ppcc

Pc
Purple White Purple White

PpCC PPCc ppCC ppCc

pC
Purple Purple White White

PpCc Ppcc ppCc Ppcc

pc
Purple White White White

The phenotypic ratio is 9 purple : 7 white.

In her itance of two Genes :-

Dihybrid Cross : Mendel make the cross between two pairs of contrasting characters
he made cross between ground (RR) & wrinkled (rr) cotyladons with green (YY) & yellow
(yy) it is dihybrid cross.

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Law of independent assor tment :- Law given on the basis of dihybr id cross.
When hybridization of two pairs of contrasting characters are done then This characters are
segregated independly that is heredity of one characters does not effects the other character.
10. Rediscovery of Mendel's Laws
- Though Mendel published his work and the laws of inheritance in 1865, they remained
unrecognised till 1900, for the following reasion:
(i) His work could not be widely publicised as communication was not easy.
(ii) His concept of 'factors' as stable and discrete units that controlled the expression
oof traits, and that or pair of alleles which did not blend with each other, were not
accepted by his contemporaries as the explanation for variation.
(iii) Mendel's approach of using mathematics to explain the biological phenomena
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 was new and unacceptable to many biologists.
(vi) Though Mendel's work suggested that factors were discrete units, he could not
provide any physical proof for the existence of factors or prove what they are made
of.
- In 1900, de Vries, Correns and Tchermark independently rediscovered Mendel's
result on the inheritance of characters.
- By then, there had been advancemetns is microscopy and scientists were able to
observe cell division, nucleus, chromosomes, etc.
- By 1902, choromosome movements during cell division had been worked out.

Chromosomal Theory of Inheritance.

- Walter Sutton and Theodor Boveri independently postulated this theory in 1902.
- They found that the behaviour of chromosomes was parallel to the behaviour of
mendelian factors (genes) and used the cromosome movements to explain Mendel's
laws.
- The similarities are as follows:
(i) Both genes and chromosomes occur in pair in normal diploid cells.
(ii) Both of them segregate during gamete formation and only one members of each
pair enters a gamete.
(iii) Members of each pair segregate independently of the members of the other pair
(s)
- Sutton and Boveri argued that the pairing and separation of the homologous pair of
chromosomes would lead to the segragation of a pair of factors they carried.

Linkage :-
It is staying together of genes & their block inheritance from generation to
generation.
Linked genes :-
Those genes which do not show independent assortment but remain together and
inherited due to the presence of genes on some homologous chromosome. Linked
genes shows a dihybrid ratio of 3:1 & a test cross ratio 1:1

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Types of Linkage :-

1) Complete linkage :-
The genes closely located on chromosome shows complete linkage as they do not
separated by crossing over and are always transmitted together to the same gamete
& same offspring. Parental combination in of traits are passed as such into the young
ones.
2) Incomplete linkage :-
The genes located distantly on the chromosome shows in complete linkage because
they have a chance of separation by crossing over and of going into different gametes
and offspring
Crossing over & Recombination :-
Morgan coined term crossing over to detect the exchange of alleles. It produces new
combination of alleles called as cossovers or recombinants.Unchanged combination of alleles
are called as parental or noncross overs. Morgan hypothised chaisma type hypothesis & said
that exchange of alleles could occurs through chaismata present in chromosomes. We can say
that“Crossing over is the reciprocal exchange of segments between non-sister chromatids of
homologus chromosomes which give rise to new combination of alleles & new linkage.

After exchange of segments non sister chromatids are called as cross over’s or
recombinants.Chromatids which do not take part in crossing over is called as non crossovers
or parental types.

Recombination :-
is new combination of genes present in progeny different from those of parents due to
independent assortment, crossing over, & random combination during
fertilization.Product that arises naturally as a result of recombination in its genotype is
called as recombinant.Frequency of crossing over is more then frequency of recom
bination. Parental & recombinant type after crossing over.

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Gene mapping :-
Linkage or chromosome map is a linear graphic representation of the sequence of
genes present over chromosome & relative distances between them. In this relative
position & distances of different places are given.
Basis of chromosome mapping :-
Recombination frequency is connected to relative distances between then the genes
& that are used for building a map of the linked genes.Frequency of crossing over com
bination & physical distance b/w two genes
Sex determination :-
Establishment of sex through differential development in an individual at on early stage
of life is called sex determination.

In higher organisms :-

Autosomes :-
These are the chromosomes which helps in determination of morphophysialogical
Characters other then sex related characters.

Allosomes :-
(sex chromosomes) These are the chromosomes which helps in the determination
of sex of organism.

Allosomic genetic determination of sex :-

sex is determined by distinct chromosomes called as sex chromosomes/allosomes/
idio chromosomes.In all the cases of chromosomes determination of sex, there are
chances of 50% males & 50% females. It is because at least one type of sex
produces two type of gametes in equal proportion phenomenon is called as
hetrogamesis or hetrogamety. Sex which perform hetrogamesis is called hetro
gametic sex.

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I t is of 2 types :-
1) xx-xy type 2) xx-xo type

1) XX-XY type :-
This type of sex determination is found in mammals & in some insects like fruitfully
drosophila.In this female is homomorphic with 2 similar sex chromosomes – xx male is
hetromorphic with one xchromosome & other is y- chromosome.

Determination of sex in human beings :-

Sex of the baby is determined by the type of sperm which fuse with egg. Female is homoga-
metic & it produces one type of eggs (22 + x) & male is hetro gametic. It forms 2
types of sperms –
1) Androsperms (22 + y)
2) Gynosperms (22 + x)
In the human beings sex of offspring is established at the time of fertilisation.

1) xx-xo type of determination :-

occurs in round worms grasshoppers cockroaches etc. In this female has two sex
chromosome that is xx produce one type of gamete that is A + X. Males is hetrogametic
producing androsperms –A + O & Gynosperms –A + x
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3) ZW-ZZ type of sex determination :-
occurs in birds, some reptiles, fishes, plant fragaria. In this female is homomorphic -
ZW & male is homomorphic-ZZ. The female produces two types of egg, male forming (A+
Z) and female forming (A+W) male produce only one type of sperms (A+Z)

4) ZO-ZZ type of sex determination :- found in butterfly & moth’s. Here males are homo
morphic with all the sperms having genetic make up of (A+Z) while female is heterogametic

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having (A + Z) &
(A + O) type of egg.

2 female – AA + ZO
2 male – AA + ZZ

4) Mutation :- They are unpredictable, stable & inheritable changes which occur in
the chromosome no. chromosome structure & genes.
Mutation produces small small differences if this changes occurs slowly or gradually
then old characters of organism changes into new characters. Mutation is helpful in
evolution.
Some mutation are useless so they are discarded since they can destroy the offspring but
sometimes the mutation are useful helps in the development of organism.
Deletion of DNA segment or addition of chromosomes (duplication) may led to the
change in st of chromosome because genes are located on chromosome. Chromosomes
shows transformation dissimilarities & delocation.

Mutation is of 2 types –
1) gene mutation or point mutation
2) chromosomal mutation
1) Gene mutation or point mutation :- Gene mutation is a type of mutation in which physical

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 & chemical change of genes occurs due to which.
Clear changes in basic characters can be observed.
It is of two types :-
1) Change in ar rangement of genes :- If arrangement of genes on the chromosomes are
changed due to some reasons then the character
of that spp. also changes eg.- fruit fly.
2) Chromosomal mutations :- this mutation occurs in reproductive cells during gamete
formation.
In every germ cell synopsis occur during meiosis which causes changes in homologus
chromosomes or changes in no. can occur. This type of mutations are chromosomal mutation

It is of 2 types :-
A) changes in internal structure of chromosomes
B) Changes in no. of chromosomes
A) Changes in internal structure of chromosomes It is of 4 types
1) Deletion of any segment of chromosome :- During synopsis any one segment of
chromosome having genes on it remains separated form parental chromosome and not
transferred in the gamete formed. The organism formed from this gamete has deficiency
of that type of genes.
2) Duplication of genes :- During synapses chromosomes get separated & exchange
between homologus pair of chromosomes occurs. During this any segment of one
chromosome remained attached with other segment but in result the first segment do
not get any other segment. This phenomenon is called as duplication for one chromosome &
deletion for another chromosome.
3) Inversion :- It is a change in chromosomal architecture in which poet of chromosome
gets rotated or inverted in its position so that sequence of genes in the inverted region is
reversed.
4) Trans location :- When some segment of a one homologus pair of chromosome is related
to the other homologus pair of chromosome & is transferred to the offspring. It is called as
translocation.
Changes in no. of chromosome :- Chromosome no of each cell is fixed and changes
in this no. occurs which causes changes in character of organism.
It is of 3 types
1) An euploidy
2) eu ploidy
3) other chromosome abnormalities

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1) An euploidy :- Some times in a pair of chromosome instead of 46 chromosome it
becomes 44, 45 or 47, 48 in no. It is called aneuploidy.
1) In humans :– If instead of 46 chromosome no. is 47 then called as hyperploidy.
2)In humans :- If instead of 46 chromosome less no. is that hypoploidy.
1) Auto somal aneuploidy :- when the changes occur in autosomes than called as autosomal
aneuploidy
Example – Down syndrome, Edward syndrome, pataus syndrome.

2) Aneuploidy of sex chromosome :- When changes on occur in sex chromosome this

changes occur in
x-chromosomes 2 types of syndrome are found.
Example – turner syndrome, Kline felters syndrome
2) Euploidy :- When the chromosome no. in the organism from 2n becomes 3n, 4n or
more then called as euploidy.
3) Other chromosomal abnormalities :- Changes in the chromosomes. It includes
deletion trans location etc. these are lethal.
Mendilian disorders :- These are the genetic disease showing mendalian inheritance
caused by mutations in this genes with pathological consequences two types of
disorders –
1) Autosomal disorders 2) sex linked disorders
Autosomal disorders :- (Genetic disorder)

1) sickle cell anemia :- It is a recessive hereditary disorder of autosomal nature the gene
presents on 11th chromosome takes place. Mutated gene is called Hbs. This cause change of
Hb structure Erythrocytes which are circular generally becomes sickle shaped. This sickle
shaped erythrocytes are unable to pass through blood capillaries.
Major effect of this result in clogging of blood capillaries, anaemia, reduced blood
supply to vital organs, jaundice, muscle cramps, headache, spleen damage, damage of
brain and other vital organs.

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2) Phenyl ketonuria : It is in born error of metabolism causes by autosomal recessive allele
present on 12th chromosome.
In this child with defective heredity is born normally but after few weeks genetic disorder
begins to appear.
In this disease increase of phenylalanine concentration in blood & urine due to lack of
enzyme phenylalanine hydroxylase, preventing transformation of phenylalanine into
tyrosine. Accumulation of phenylalanine & its derivative in cerebrospinal fluid leds to
mental retardation skin, hair and urine , eczema appears, skin and hair shows hypopigmentation.

Sex linked disorders :- (Genetic disorder)

1) Haemophilia (Bleeders disease) It is a sex linked recessive disorder. Defect is called
bleeders disease due to lack of blood clotting factor VIII or IX Two type of haemophilia
are present the hemophilia B (Chistmas disease) & Haemophilia-A.
The defect has been inherited by many royal families of Europe through queen victoria.
Human females are the carrier of this disorder & remains normal throughout life. Males
suffers from the disease due to hemizygous nature of sex linked traits.
If double recessive condition appear in female then it dies.

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Mar r iage between normal man & car r ier women :-

Mar r iage between Hemophilic man & normal women :-

Marriage between Hemophilic man & carrier women :-

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Chromosomal Disorder in humans :-
- These are caused due to absence or excess or abnormal arrangement (Strucutre) of one
or more chromosomes.
- Such a situation leads to serious consequences in the individual.
- Some of the chromosomal disorders are discussed below :
(a) Down’s Syndrome :-
- It is caused by the presence of an extra copy of the chromosome 21, i.e, trisomy of 21st
chromosome.
- This disorder was first reported by Langdon Down (1866).
- The afflicted individual shows the following symptoms :
- Short stature and small round head with a flat back.
- Paratially open mouth with furrowed tongue.
- Broad, flat face with slanting eyes.
- Broad palm with characteristic palmer crease.
- Small and arched palate.
- Epicanthic eye fold.
- Congential heart diseases.
- Mental retardation.
(b) Klinefelters syndrome :-
- It is caused by the presence of an extra X-chromosome in the male, i.e. XXY ; the
individual has 47 chromosomes.
- Though the individual is a male, he shows a number or feminised characters.
- Following are the characteristic symptoms of the disorder.
- Tall stature with feminised physique.
- Breast development (gynaecomstia)
- Female type of pubic hair pattern.
- Poor beard growth
- Sterility.
(c) Turner’s syndrome :-
- This disorder is caused due to the absence of one of the X-Chromosomes in a female; the
karyotype has only 45 chromosomes and they are called as XO females.
- The following are the symptoms of an affected individual.
- Webbed neck
- Rudimentary ovaries
- Poor development of breasts

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- Shield-shaped thorax
- Sterility.
Pedigree Analysis :- Study of transmission of traits graphically over the present & last few
generation for finding possibility of their occurrence in future generation. It involves study of
family record the inheritance and distribution of certain genetic traits in human beings. It is use
for domestic animals especially the pets.
By studying family histories it is found that several traits are inheritable in humans.

Example :- polydactyly, Blindness, Color blindness, Sicklecellanaemia

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 Important Questions

Q.1 Differentiate between the following –

a) Monohybrid and Dihybrid
b) Dominance and Recessive
Q.2 How does ABO system of blood group in humans? Illustriate the phenomenon of
codominance ? Explain ?
Q.3 What is pedigree Analysis ?
Q.4 How is sex determined in Human beings.
Q.5 Mention the advantages of selecting pea plant for experiment by Mendel ?

Important For Medical & Entrance Exams

Competition Focus
NEET/AIIMS Special
1. William Bateson :- Coined the term geneties in 1906. He also introduced the
terms allele, Homozygote, Hetrozygote, F1, F2.

2. Progeny :- Offspring descendants.

3. Siblings or Sibs :- Individuals having same parents, eg; brothers and sisters.

4. Drosophila :- Use of drosophila for genetic Research was started by T.H. Morgan
in 1906 at columbia Univ.

5. Polyhybrid Cross :- A breeding experiment dealing with more than two Traits at a
time.

6. Inbreeding :- Production of offspring by mating of closely related parents such as

brother and sister or cousins.

7. Outbreeding :- Production of offsprings by Mating of closely unrelated parents.

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8. Duplicate genes :- Two pairs genes that lie in different chromosomes and pro-
duce a single trait with or without a cumulative effect. The coat colour in Duroc-
jersy breed of pigs depend on 2 pairs of genes.

9. Lethal genes :- Genes that make the organism having them inviable to live.. in
yellow Rce of house mouse, Mus musculus, the gene yy kill the embryos.

10. Modifier Genes :- Genes that alter or modify the expression of other Nonallelic.
genes modifier genes produce a veriety crests on pigeons head.

Q. 1 Which one of the following conditions correctly Describe the manner of determining
the sex ?
a. Homozygous sex chromosomes (zz) determine female sex in birds
b. XO type of sex chromosomes determine Male sex in grasshopper.
c. XO condition in humans as found in turner’s syndrome, determine female sex.
d. Homozygous sex chromosomes (XX) produce male in drosophila.
(AIPMT 2011)

Q. 2 When two unrelated individuals or lines are crossed the proformance of f hybrid is
often superior to both its parents, this phenomenon is called.
a. heterosis b. Transformation
c. splicing d. Metamorphosis (CPMT 2008)

Q. 3 Mutations can be induced with

a. Infra red radiations b. IAA
c. Ethylene d. Gamma Radiation (MP PMT 2007)

Q. 4 Test cross in plants or in drosophil a involves crossing.

a. between two genotypes with Recessive Trait
b. between two F1 hybrids.
c. The F1 hybrid with a double Recessive genotype.
d. between two genotype with dominant trait. (BHU 2009)

Q. 5 F2 generation in a mendelian cross showed that both genotypic and phenotypic

ratios are same as 1 : 2 : 1. It represents a case of —
a. Co-dominance

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 b. Dihybrid cross
c. Monohybrid cross with complete dominance.
d. Monohybrid cross with incomplete dominace (AIPMT Prelim 2012)

Q. 6 When both alleles of a pair are fully expressed in a heterozygote they are called.
a. Lethals b. Co-dominance
c. Semi-dominants d. Recessive allele (AMU 2012)

Q. 7 The colur based contrasting traits in seven contrasting pairs, studied by mendel in
pea plant were
a. 1 b. 2
c. 3 d. 4 (AMU 2012)

Q. 8 Which one of the following symbols and its representation used in human pedigree
analysis is correct.
a. = Male effect b. = Mating between Relatives

c. = Unaffected male d. = Unaffected female (AIPMT 2010)

Q. 9 The genotype of a plant showing a dominant phenotype can be determined by

a. Back cross b. Test cross
c. Dinydrid cross d. Pedigree analysis (AIPMT 2010)

Q. 10 ABO blood group in humans in controlled bya gene I. it has three alleles - I(a) I (b)
and i. Since these are three different alleles, six differnet genotype are possible,
how many phenotypes can occur.
a. Two b. One
c. Three d. Four (AIPMT 2010)

Q. 11 Point mutation involves

a. Change in single base pair b. Duplication
c. Deletion d. Insertion (AIPMT 2009)

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Q. 12 Down’s syndrome in due to
a. Linkage b. Sex-Linked Inheritance
c. Crossing over d. Non-disjunction of chromosomes (DPMT 2009)

Q. 13 In seven pairs of contrasting characters in pea plant plant studied by mendel the
number of flower based characters was
a. 1 b. 2
c. 3 d. 4 (AMU Mdedicals 2009)

Q. 14 The X/O syndrome is called

a. Turner’s b. Klinefelter’s
c. Down’s d. Cushing’s (Orissa JEE 2009)

Q. 15 Sickle cell anaemia is

a. caused by substitution of valine by glutamic acid in the beta globin chain of
haemoglobins
b. caused by a change in a single base pair of DNA.
c. characterized by elongated sickle like RBC’S with a nucleus.
d. An autosomal linked dominant trait. (AIPMT 2009)

Q. 16 Down syndrome occurs as a result of

a. Trisomy b. Tetrasomy
c. Autopolyploidy d. Allopolyploidy (WB JEE 2008)

Q. 17 In a monoyvrid cross involving incomplete dominance the phenotypic ratio equals

the genotypic ratio in F2 generation. The ratio is
a. 3 : 1 b. 1 : 2 : 1
c. 1 : 1 : 1 : 1 d. 9 : 7 (J & K PMT 2007)

Q. 18 Turner syndrome is
a. xo b. XXX
c. xxx d. xyy (DPMT 2007)
Q. 19 male and female sex chromosome are also called
a. Polytene b. Autosomes
c. Holandric d. Allosomes (Haryana PMT 2003)

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Q. 20 Crossing over occurs between two Homologous chrosomes in
a. Leptotene b. Diplotene
c. Pactytene d. Zygotene (Haryana PMT 2003)

Q. 21 Sickle cell Anaemia shows

a. Epistasis b. Co-dominance
c. Pleiotropy c. Incomplete dominance (AFMC 1999)
Q. 22 Tt × tt is
a. Reciprocal cross b. Hybridisation
c. Test cross d. Back cross
(Har. PMT 2001, MP PMT 2002)
Q. 23 Which one is a Test cross ?
a. Ww × Ww b. Ww × ww
c. ww × ww d. WW × ww (DPMT 2008)

Q. 24 Variations occur during meiosis due to

a. Crossing over b. Independent Assortment
c. Linkage d. Disjunction (CPMT 2009)

Q. 25 Sex chrosomes of female bird are

a. zw b. zz
c. xx d. xo (Kerala 2008)

Q. 26 Cri-du-chat is due to chromosome a b erration called

a. Inversion b. Translocation
c. Deletion d. Duplication (AFMC 2008

Q. 27 Child with blood group O has B group father. The father has a genotype of
a. IOIO b. IOIB
B B
c. I I d. IAIA (MP PMT 2009)

Q. 28 Blood group AB person has antign over its erythrocytes

a. B b. A
c. A and B d. None of these (Orissa 2010)

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Q. 29
B A
1

B A AB B A A

3 4 5 6 7 8

O B A AB
AB
9 10 11 12 13

Study the pedigree chart given above showing the inheritance pattern of blood
group in a family and answer the following question.
A. Give the possible genotypes of individuals 1 and 2.
B. Which antigen or antigens will be present on the plasma memb of the RBCs of
individuals 5 and 9.
C. Give the genotype of the individuals 3 and 4.
Ans. (a) I-IBIO, 2-IAIO
(b) 5-Both Antigens A and B, 9-No antigen
(c) 3-IBIO, 4-IAIO

ANSWER SHEET
Q.No. 1 2 3 4 5 6 7 8 9 10

Ans. b a a c d b c b b d

Q.No. 11 12 13 14 15 16 17 18 19 20

Ans. a d b a b a b a b c

Q.No. 21 22 23 24 25 26 27 28

Ans. c c b a a c b c

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