IMPORTANT TERMS • Heterozygous: The condition in which chromosome pair

• Genetics: Study of inheritance, heredity and variation of carries dissimilar alleles of a gene. E.g. Tt, Yy etc.
characters or Study of genes and chromosomes. • Dominant character: The character which is expressed in
• Inheritance/ Heredity: Transmission of characters from heterozygous condition. It indicates with capital letter.
parents to offspring. It results in resemblance between • Recessive character: The character which is suppressed in
offspring and their parents. heterozygous condition. It indicates with small letter.
• Variation: Difference between parents and offspring. • Phenotype: Physical expression of a character.
• Allele: Alternative forms of a gene. E.g. T (tall) and t • Genotype: Genetic constitution of a character.
(dwarf) are two alleles of a gene for the character height. • Hybrid: An individual produced by the mating of
• Homozygous: The condition in which chromosome pair genetically unlike parents.
carries similar alleles of a gene. Also known as pure line • Punnett square: A graphical representation to calculate
(True breeding). E.g. TT, tt, YY, yy etc. probability of all genotypes of offspring in a genetic cross.

MENDEL’S LAWS OF INHERITANCE

Gregor Mendel is the Father of genetics. The F1 (Tt) when self-pollinated, produces gametes T and t
He conducted some hybridization experiments on garden peas in equal proportion. During fertilization, pollen grains of T
(Pisum sativum). have 50% chance to pollinate eggs of T & t. Also, pollen
Steps in making a cross (Deliberate mating) in pea: grains of t have 50% chance to pollinate eggs of T and t.
▪ Selection of 2 pea plants with contrasting characters. 1/4th of the random fertilization leads to TT (¼ TT).
▪ Removal of anthers (emasculation) of one plant to avoid 1/2 (2/4) of the random fertilization leads to Tt (½ Tt).
self-pollination. This is female parent. 1/4th of the random fertilization leads to tt (¼ tt).
▪ Collection of pollen grains from the other plant (male Tt x Tt
parent) and transferred to female parent (pollination). Binomial expression = (ax + by) 2
▪ Collection and germination of seeds to produce offspring. Hence (½ T + ½ t) 2 = (½ T + ½ t) (½ T + ½ t)
Mendel selected 7 pairs of true breeding pea varieties: = ¼ TT + ¼ Tt + ¼ Tt + ¼ tt
Characters Dominant Recessive
= ¼ TT + ½ Tt + ¼ tt
1. Stem height Tall Dwarf
2. Flower colour Violet White Mendel self-pollinated the F2 plants. He found that dwarf F2
3. Flower position Axial Terminal plants continued to generate dwarf plants in F 3 & F4 . He
4. Pod shape Inflated Constricted concluded that genotype of the dwarfs was homozygous- tt.
5. Pod colour Green Yellow
6. Seed shape Round Wrinkled Backcross and Testcross
7. Seed colour Yellow Green ▪ Backcross: Crossing of F1 hybrid with its any of parent.
▪ Testcross: Crossing of F1 hybrid with its recessive parent.
INHERITANCE OF ONE GENE
Monohybrid cross: A cross involving 2 plants differing in
one character pair. E.g. Mendel crossed tall and dwarf pea
plants to study the inheritance of one gene.
Monohybrid phenotypic
ratio: Hence monohybrid test cross ratio= 1:1
3 Tall: 1 Dwarf = 3:1 Test cross is used to find out the unknown genotype of a
Monohybrid genotypic character. E.g.
ratio:
1 Homozygous tall (TT):
2 Heterozygous tall (Tt):
1 Homozygous dwarf (tt):
= 1:2:1
Mendel made similar
observations for other
pairs of traits.
He proposed that some factors were inherited from parent to
offspring. Now it is called as genes.
Do not use T for tall and d for dwarf because it is difficult
to remember whether T & d are alleles of same gene or not. Mendel conducted test cross to determine the F2 genotype.
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 Mendel’s Principles or Laws of Inheritance On observing the F 2 , Mendel found that yellow and green
colour segregated in a 3:1 ratio.
1. First Law (Law of Dominance)
Round & wrinkled seed shape also segregated in a 3:1 ratio.
▪ Characters are controlled by discrete units called factors.
▪ Factors occur in pairs. Dihybrid Phenotypic ratio= 9 Round yellow: 3 Round
▪ In a dissimilar pair of factors one member of the pair green: 3 Wrinkled yellow: 1 Wrinkled green = 9:3:3:1
dominates (dominant) the other (recessive). The ratio of 9:3:3:1 can be derived as a combination series of
2. Second Law (Law of Segregation) 3 yellow: 1 green, with 3 round: 1 wrinkled.
“During gamete formation, the factors (alleles) of a i.e. (3: 1) (3: 1) = 9: 3: 3: 1
character pair present in parents segregate from each other Dihybrid genotypic ratio: 1:2:1:2:4:2:1:2:1
such that a gamete receives only one of the 2 factors”.
RRYY =1 RRYy =2 RrYY =2
Homozygous parent produces similar gametes.
RrYy =4 RRyy =1 Rryy =2
Heterozygous parent produces two kinds of gametes.
rrYY =1 rrYy =2 rryy =1
INHERITANCE OF TWO GENES
Mendel’s 3rd Law: Law of Independent Assortment
Dihybrid cross: It is a cross between two parents differing in
- It is based on the results of dihybrid crosses.
2 pairs of contrasting characters. E.g. Cross b/w pea plant with
- It states that ‘when more than one pair of characters are
round shaped & yellow coloured seeds (RRYY) and wrinkled
involved in a cross, factor pairs independently segregate
shaped & green coloured seeds (rryy).
from the other pair of characters’.
Parents: RRYY X rryy
The concept of dominance
Gametes: RY ry
In heterozygotes, there are dominant and recessive alleles.
F1 : RrYy (Round yellow) Normal (unmodified or functioning) allele of a gene produces
Selfing: RrYy X RrYy a normal enzyme that is needed for the transformation of a
Ry rY ry
substrate. The modified allele is responsible for production of
Gametes: RY RY Ry rY ry
(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.
F2 :
In 2nd and 3rd cases: The phenotype will dependent only on
the functioning of the unmodified allele. Here, the modified
allele becomes recessive.

OTHER PATTERNS OF INHERITANCE (NON-MENDELIAN INHERITANCE)

1. Incomplete Dominance - This gene controls the production of sugar polymers
- It is an inheritance in which heterozygous offspring shows (antigens) that protrude from plasma membrane of RBC.
intermediate character b/w two parental characteristics. - The gene I has three alleles I A , I B & i.
- E.g. Flower colour in snapdragon (dog flower or - I A and I B produce a slightly different form of the sugar
Antirrhinum sp.) and Mirabilis jalapa (4’O clock plant). while allele i doesn’t produce any sugar.
Alleles from Alleles from Genotype of Blood types
Here, phenotypic and
parent 1 parent 2 offspring (phenotype)
genotypic ratios are IA IA IA IA A
A
same. I IB IA IB AB
IA i IAi A
Phenotypic ratio=
IB IA IA IB AB
1 Red: 2 Pink: 1 White IB IB IB IB B
B
Genotypic ratio= I i IBi B
i i ii O
1 (RR): 2 (Rr): 1(rr)
This means that R was When I A and I B are present together they both express their
own types of sugars. This is due to co-dominance.
not completely
dominant over r. 3. Multiple allelism
- Pea plants also show incomplete dominance in other traits. - Here, more than two alleles govern the same character.
2. Co-dominance - E.g. ABO blood grouping (3 alleles: I A , IB & i).
- It is the inheritance in which both alleles of a gene are 4. Polygenic inheritance
expressed in a hybrid. E.g. ABO blood grouping in human. - It is the inheritance in which some traits are controlled by
- ABO blood groups are controlled by the gene I. several genes (multiple genes).

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- E.g. human skin colour, human height etc. - In most cases, the mechanism of pleiotropy is the effect of
- It considers the influence of environment. a gene on metabolic pathways which contributes towards
- In a polygenic trait, the phenotype reflects the contribution different phenotypes.
of each allele, i.e., the effect of each allele is additive. - E.g. Starch synthesis in pea, sickle cell anaemia,
Human skin colour: phenylketonuria etc.
- Assume that 3 genes A, B, C control human skin colour. - In Phenylketonuria & sickle cell anaemia, the mutant gene
The dominant forms A, B & C responsible for dark skin has many phenotypic effects. E.g. Phenylketonuria causes
colour and recessive forms a, b & c for light skin colour. mental retardation, reduction in hair and skin pigmentation.
- Genotype with all the dominant alleles (AABBCC) gives Starch synthesis in pea plant:
darkest skin colour. - Starch is synthesized effectively by BB gene. Therefore,
Genotype with all the recessive alleles (aabbcc) gives
large starch grains are produced. bb have lesser efficiency
lightest skin colour. in starch synthesis and produce smaller starch grains.
Therefore, genotype with 3 dominant alleles and 3
- Starch grain size also shows incomplete dominance.
recessive alleles gives an intermediate skin colour.
- Thus, number of each type of alleles determines the
darkness or lightness of the skin in an individual.
5. Pleiotropy
- Here, a single gene exhibits multiple phenotypic
expressions. Such a gene is called pleiotropic gene.

CHROMOSOMAL THEORY OF INHERITANCE

Mendel’s work remained unrecognized till 1900 because, Linkage and Recombination
▪ Communication was not easy. Linkage is the physical association of two or more genes on
▪ His mathematical approach was new and unacceptable. a chromosome. They do not show independent assortment.
▪ The concept of genes (factors) as stable and discrete units Recombination is the generation of non-parental gene
was unacceptable. (Mendel could not explain the combinations. It occurs due to independent assortment or
continuous variation seen in nature). crossing over.
▪ Mendel could not provide physical proof for the existence
Morgan carried out several dihybrid crosses in Drosophila to
of factors.
study sex-linked genes. E.g.
In 1900, de Vries, Correns & von Tschermak independently
rediscovered Mendel’s results. Cross 1: Yellow-bodied, white-eyed females
X
Chromosomal Theory of Inheritance (1902):
Brown-bodied, red-eyed males (wild type)
Walter Sutton & Theodore Boveri said that the pairing and
Cross 2: White-eyed, miniature winged
separation of a pair of chromosomes lead to segregation of a X
pair of factors they carried. Sutton united chromosomal Red eyed, large winged (wild type)
segregation with Mendelian principles and called it the (See figure in T.B. Page: 84)
chromosomal theory of inheritance. It states that,
Morgan intercrossed their F 1 progeny. He found that
▪ Chromosomes are vehicles of heredity.
▪ The two genes did not segregate independently of each
▪ Two identical chromosomes form a homologous pair.
other and the F2 ratio deviated from the 9:3:3:1 ratio.
▪ Homologous pair segregates during gamete formation.
▪ Genes were located on the X chromosome.
▪ Independent pairs segregate independently of each other.
▪ When two genes were situated on the same chromosome,
Genes (factors) are present on chromosomes. Hence genes the proportion of parental gene combinations was much
and chromosomes show similar behaviours. higher than the non-parental type. This is due to linkage.
Thomas Hunt Morgan proved chromosomal theory of ▪ Genes of white eye & yellow body were very tightly linked
inheritance using fruit flies (Drosophila melanogaster). and showed only 1.3% recombination.
It is the suitable material for genetic study because, ▪ Genes of white eye & miniature wing were loosely linked
• They can grow on simple synthetic medium. and showed 37.2% recombination.
• Short generation time (life cycle: 12-14 days). ▪ Tightly linked genes show low recombination. Loosely
• Breeding can be done throughout the year. linked genes show high recombination.
• Hundreds of progenies per mating. Alfred Sturtevant used the recombination frequency
• Male and female flies are easily distinguishable. E.g. Male between gene pairs for measuring the distance between genes
is smaller than female. and ‘mapped’ their position on the chromosome.
• It has many types of hereditary variations that can be seen Genetic maps are used as a starting point in the sequencing
with low power microscopes. of genomes. E.g. Human Genome Project.
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 SEX DETERMINATION
- The chromosomes that are involved in sex determination • Females produce only ovum with an X-chromosome.
are called sex chromosomes (allosomes). They include X • There is an equal probability of fertilization of the ovum
& Y chromosomes. with the sperm carrying either X or Y chromosome.
- Autosomes are chromosomes other than sex chromosomes.
Number of autosomes is same in males and females.
- Henking (1891) studied spermatogenesis in some insects
and observed that 50 % of sperm received a nuclear
structure after spermatogenesis, and other 50 % sperm did
not receive it. Henking called this structure as the X body
The sperm determines whether the offspring male or female.
(now it is called as X-chromosome).
Sex determination in honeybee
Mechanism of sex determination
- It is based on the number of sets of chromosomes an
a. XX-XO mechanism: Here, male is heterogametic, i.e.
individual receives.
XO (Gametes with X and gametes without X) and female
- Fertilised egg (egg + sperm) develops as a female (queen or
is homogametic, i.e. XX (all gametes are with X-
worker).
chromosomes). E.g. Many insects such as grasshopper.
- An unfertilised egg develops as a male (drone). It is called
b. XX-XY mechanism: Male is heterogametic (X & Y) and
parthenogenesis.
female is homogametic (X only). E.g. Human &
- Therefore, the females are diploid (32 chromosomes) and
Drosophila.
males are haploid (16 chromosomes). This is called as
c. ZZ-ZW mechanism: Male is homogametic (ZZ) and
female is heterogametic (Z & W). E.g. Birds. haplodiploid sex determination system.
- In this system, the males produce sperms by mitosis. They do
XX-XO & XX-XY mechanisms show male heterogamety.
ZZ-ZW mechanism shows female heterogamety. not have father and thus cannot have sons, but have a
grandfather and can have grandsons.
Sex Determination in Humans (XX-XY type)
• Human has 23 pairs of chromosomes (22 pairs of
autosomes and 1 pair of 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.
50 % with X-chromosome and 50 % with Y-chromosome.

MUTATION AND GENETIC DISORDERS

MUTATION - In human genetics, pedigree study is utilized to trace the
It is a sudden heritable change in DNA sequences resulting in inheritance of a specific trait, abnormality or disease.
changes in the genotype and the phenotype of an organism. Symbols used in pedigree analysis
Mutation is 2 types: Male: Female: Sex unspecified:
• Frame-shift mutation: It is the loss (deletions) or gain
Affected individual: Mating:
(insertion/ duplication) of a DNA segment.
• Point mutation: It is the mutation due to change in a single Mating b/w relatives (consanguineous mating):
base pair of DNA. E.g. sickle cell anaemia. Parents above & Parents with Five unaffected
• Mutation results in Chromosomal abnormalities (aberrations). children below affected male child offspring
Chromosomal aberrations are seen in cancer cells.
• The agents which induce mutation are called mutagens.
They include
GENETIC DISORDERS
- Physical mutagens: UV radiation, α, β, γ rays, X-ray etc.
- Chemical mutagens: Mustard gas, phenol, formalin etc. The disorders due to change in genes or chromosomes.
2 types: Mendelian disorders & Chromosomal disorders.
PEDIGREE ANALYSIS
1. Mendelian Disorders
- In human, control crosses are not possible. So the study of
• It is caused by alteration or mutation in the single gene.
family history about inheritance is used.
• The pattern of inheritance of Mendelian disorders can be
- Such an analysis of genetic traits in several generations of
traced in a family by the pedigree analysis.
a family is called pedigree analysis.
• E.g. Haemophilia, Colour blindness, Sickle-cell anaemia,
- The representation or chart showing family history is called
Phenylketonuria, Thalassemia, Cystic fibrosis etc.
family tree (pedigree).
• Mendelian disorders may be dominant or recessive.

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• Pedigree analysis helps to understand whether the trait is • This is due to the single base substitution at the sixth codon
dominant or recessive. of the β-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.
A B
Phenylketonuria:
Pedigree analysis of • An inborn error of metabolism.
(A) Autosomal dominant trait (E.g. Myotonic dystrophy) • Autosomal recessive disease.
(B) Autosomal recessive trait (E.g. Sickle-cell anaemia) • It is due to mutation of a gene that codes for the enzyme

Haemophilia (Royal disease): phenyl alanine hydroxylase. This enzyme converts an

amino acid phenylalanine into tyrosine.
• It is a sex linked (X-linked) recessive disease.
• The affected individual lacks this enzyme. As a result,
• In this, a protein involved in the blood clotting is affected.
phenylalanine accumulates and converts into phenyl
• A simple cut results in non-stop bleeding.
pyruvic acid and other derivatives.
• The disease is controlled by 2 alleles, H & h. H is normal
• They accumulate in brain resulting in mental retardation.
allele and h is responsible for haemophilia.
These are also excreted through urine because of poor
XH XH Normal female
absorption by kidney.
H h Heterozygous female (carrier). She may
X X Thalassemia:
transmit the disease to sons.
Xh Xh Hemophilic female • An autosome-linked recessive blood disease.
XH Y Normal male • It is transmitted from unaffected carrier (heterozygous)
Xh Y Hemophilic male parents to offspring.
• In females, haemophilia is very rare because it happens only • It is due to mutation or deletion.
when mother is at least carrier and father haemophilic • It results in reduced synthesis of  or  globin chains of
(unviable in the later stage of life). haemoglobin. It forms abnormal haemoglobin and causes
Colour blindness: anaemia.
• It is a sex-linked (X-linked) recessive disorder due to defect • Based on the chain affected, thalassemia is 2 types:
in either red or green cone of eye. It results in failure to o  Thalassemia: Here, production of  globin chain is
discriminate between red and green colour. affected. It is controlled by two closely linked genes
• It is due to mutation in some genes in X chromosome. HBA1 & HBA2 on chromosome 16 of each parent.
• It occurs in 8% of males and only about 0.4% of females. Mutation or deletion of one or more of the four genes
This is because the genes are X-linked. causes the disease. The more genes affected, the less 
• Normal allele is dominant (C). Recessive allele (c) causes globin molecules produced.
colour blindness. o  Thalassemia: Here, production of  globin chain is
• The son of a heterozygous woman (carrier, XCXc) has a affected. It is controlled by a single gene HBB on
50% chance of being colour blind. chromosome 11 of each parent. Mutation of one or both
• A daughter will be colour blind only when her mother is at the genes causes the disease.
least a carrier and her father is colour blind (XcY). • Thalassemia is a quantitative problem (synthesise very
Sickle-cell anaemia: less globin molecules). Sickle-cell anaemia is a qualitative
• This is an autosome linked recessive disease. problem (synthesise incorrectly functioning globin).
• It can be transmitted from parents to the offspring when both 2. Chromosomal disorders
the partners are carrier for the gene (or heterozygous). They are caused due to absence or excess or abnormal
• The disease is controlled by a pair of allele, Hb A and HbS. arrangement of one or more chromosomes. 2 types:
Homozygous dominant (HbA HbA ): normal a. Aneuploidy: The gain or loss of chromosomes due to
Heterozygous (HbA HbS ): carrier; sickle cell trait failure of segregation of chromatids during cell division.
Homozygous recessive (HbS HbS ): affected b. Polyploidy (Euploidy): It is an increase in a whole set of
• The defect is caused by the substitution of Glutamic acid chromosomes due to failure of cytokinesis after telophase
stage of cell division. This is very rare in human but often
(Glu) by Valine (Val) at the sixth position of the β-globin
chain of the haemoglobin (Hb). seen in plants.
Examples for chromosomal disorders
▪ Down’s syndrome: 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:
o They are short statured with small round head.
o Broad flat face.
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 oFurrowed big tongue and partially open mouth. o Sterile.
oMany “loops” on finger tips. o Mentally retarded.
oPalm is broad with characteristic palm crease. ▪ Turner’s syndrome: This is the absence of one X
oRetarded physical, psychomotor & mental development. chromosomes in female (monosomy).
oCongenital heart disease. Genetic constitution: 44 A + X0 (i.e. 45 chromosomes).
▪ Klinefelter’s Syndrome: It is the presence of an additional Features:
copy of X-chromosome in male (trisomy). o Sterile, Ovaries are rudimentary.
Genetic constitution: 44 A + XXY (i.e. 47 chromosomes). o Lack of other secondary sexual characters.
Features: o Dwarf.
o Overall masculine development. However, the o Mentally retarded
feminine development is also expressed. E.g.
Development of breast (Gynaecomastia). Visit: www.bankofbiology.com

MODEL QUESTIONS
1. A pure yellow seeded pea plant is crossed to a pure green seeded one. Give the F 2 phenotypic ratio.
2. “All test crosses are backcrosses but all backcrosses are not test cross.” Justify.
3. A Dihybrid heterozygous round yellow seeded garden pea was crossed with homozygous double recessive parent.
a. What type of a cross is this? b. Represent the cross schematically
c. What is the significance of this cross?
4. A diploid organism is heterozygous for 4 loci, how many types of gametes can be produced? (NCERT question)
5. Two heterozygous parents are crossed. If the two loci are linked what would be the distribution of phenotypic features
in F1 generation for a dihybrid cross? (NCERT question)
6. Write down the possible genotypes and phenotypes of the young ones in the followi ng crosses.
a. Father and mother: AB group b. Father O group mother AB group
c. Father homozygous A group and mother heterozygous B group.
7. Drosophila is an ideal material for genetic study. Why?
8. In our society, females are often blamed for producing female child. As a zoology student, evaluate this statement.
9. Analyse the diagram of pedigree analysis and answer the following questions.

a. Mention the number of male and female offspring.

b. How many individuals are affected? Mention the ratio of affected male and female offspring.
c. Is this character dominant or recessive? Justify.
d. From this chart, find out whether the parents are homozygous or heterozygous.
10. Note the relationship between first two words and fill up the fourth place.
a. Human :X &Y Drosophila: ………………….
b. Turner’s syndrome : XO Klinefelter’s syndrome: …………………….
11. Odd man out and justify your answer.
a. 45 A+ XX, 45 A + XY, 44 A + XX, 44 A + XO
b. Haemophilia, sickle cell anaemia, Turner syndrome, phenyl ketonuria
12. The beta globin chains of the haemoglobin molecule of two persons are given below.
a. Which person has abnormal chain?
b. Name the disorder affected him.
c. Briefly explain the reason for that disorder.

13. Chromosome sets of four individuals are given below

22AA + XXY, 22AA + XO, 45 A + XX, 45 A + XY
a. How many autosomes and allosomes are present in normal male and females?
b. Identify and write the names of chromosomal abnormalities in the above listed chromosome set.
c. Down’s syndrome may occur in both sexes. Comment.
14. A man suffering from hemophilia marries a carrier woman. Work out the chances of their progeny suffering from the
disease. Use a flow chart.