(b) Low maternal mortality rate (MMR)

CHAPTER – 5 : PRINCIPLES OF INHERITANCE AND VATIATION

1. Some definitions

Inheritance Process by which characters are passed on from

parents to progeny/offspring

Variations Differences existing among the individuals of a

progeny and also with the parents

Gene Unit of inheritance

Allele Different form a single gene that occupy same loci

on homologous chromosomes, and they are
responsible for determining a trait.

Homozygous Has similar alleles for a trait

Heterozygous Has dissimilar alleles for a trait

Dominant allele the allele that expresses phenotypically in

heterozygous condition

Recessive alllele The allel which fails to express in heterozygous

condition

Phenotype External appearance of the individual

Genotype Genetic make up of the individual

Monohybrid cross Cross between 2 parents which differ for a pair of

alleles/character

Dihybrid cross Cross between 2 parents which differ for 2 pairs of

alleles/character

Law of dominance In a Hybrid, the allelic pair responsible for a trait is

in heterozygous condition. One of the alleles
expresses phenotypically and is called dominant
 allele. While the other fails to express and is called
recessive allele . So, the progeny resembles only one
of the parents i.e. dominant phenotype

Law of incomplete dominance In a Hybrid, the allelic pair responsible for a trait is
in heterozygous condition. Neither of the alleles is
recessive nor dominant and produces an intermediate
phenotype of the parents

Law of codominance In a Hybrid the allelic pair responsible for a trait is in

heterozygous condition. Neither of the alleles is
recessive nor dominant. They express side by side
and produces phenotype resembling both the parents

Pleiotropy Multiple effects of single gene

Multiple alleles 2 or more allelic forms of a single gene, responsible

for a trait

Polygenic inheritance 2 or 3 genes govern a single trait

Sexlinked inheritance Alleles present on sex chromosomes inherit along

with the sex chromosomes

1. Gregor Johann Mendel –father of genetics. He was the first one to demonstrate
mechanism of transmission of characters from one generation to next by working
on garden pea. He studied 7 contrasting pairs of characters.
CHAPTER 5

PRINCIPLES OF INHERITANCE AND VARIATION

S.NO MCQ
1 A Snapdragon plant bearing pink colour flowers is crossed with a Snapdragon plant bearing white
colour flowers.The expected phenotypic percentage of the offspring is
(A)50% Red :50% (B) 25%Red :50% Pink :25%White
(C)50%Pink: 50%White (D)25% Pink :50%Red :25%White.
2 Identify the category of gentic disorder depicted in the pedigree chart given below;
 TRAIT DOMINANT RECESSIVE
Seed shape Round wrinkled
Seed color Yellow green
Flower color Purple white
Flower position Axial terminal
Pod shape Inflated constricted
Pod color Green yellow
Stem height Tall dwarf

i) Reasons for selecting pea plant( Pisum sativum) for genetic experiments
2m
 It is annual plant with a short life cycle. So, several generations can be
studied within a short period.
 Has easily observable contrasting pairs of characters.
 Has bisexual flowers, hence can produce pure lines by natural self
pollination.
 Artificial cross pollination can be easily carried out.

ii) Mendel published his work in 1865. But it was unrecognized till 1900 2m
/3m
 There was no wide publicity of his work
 Mathematical approach , he used to explain biological phenomenon
was new to biologists
 Factors responsible for a trait were considered as stable and discrete
units. This was not acceptable because, in the nature continuous
variations and incomplete dominance was seen
  Chemical nature of factors was not explained.

Note: 3 scientists- de vries, Correns and von Tschermark independently rediscovered

Mendel Laws in 1900.

iii) Mendel laws

a) Law of dominance:
 Characters are controlled by discrete units called factors
 Factors occur in pairs
In a dissimilar pair of factors, one member of the pair is
dominant and the other recessive
OR
In a Hybrid, the allelic pair responsible for a trait is in heterozygous condition. One of the
alleles expresses phenotypically and is called dominant allele. While the other fails to
express and is called recessive allele . So, the progeny resembles only one of the parents
i.e. dominant phenotype

b)Law of segregation
In a hybrid there are heterozygous (dissimilar) alleles. These alleles remain together without mixing
with each other and at the time of gamete formation they separate out. So, only one allele enters each
gamete. Because of this, in F2 generation both the parental phenotypes are observed in 3 : 1 ratio for
a monohybrid cross.
Parents : Tall vs Dwarf Allele T > t

Genotype: TT tt

Gametes: T t

F1 generation: Tt
Tall
 Selfing of F1 hybrids

Tt vs Tt

Tall Tall

Gametes: t t
T t
T T
T T
T T
♀ T t T

♂
T TT Tt
tall tall
t Tt Tt
tall dwarf
F2 generation:
Phenotype ratio Tall: Dwarf
3:1
Genotype ratio TT: Tt: tt
1:2:1
a)Law of independent assortment

This law states that ‘when two pairs of traits are combined in a hybrid, segregation of one
pair of traits is independent of the other pair of traits’.
OR
In a dihybrid cross, the plants differ for 2 pairs of alleles/traits. At the time of gamete
formation the alleles responsible for a trait separate independent of the other pair of
alleles for another trait.

(A)X- Linked recessive (B) X- Linked dominant

(C ) Autosomal recessive (D)Autosomal dominant.
3 Hugo de Vries proposed the mutation theoryof organicevolution after his experiments on
(A) Garden pea (B)Evening primerose
(C )Fruit fly (D)Four o’clock plant.
4 Turner’s syndrome in humans occurs due to
(A) Aneuploidy (B)Euploidy
(C )Polyploidy (D)Autosomal abnormality.
5 The fruit fly was found to be very suitable for experimental verification of chromosomal theory
of inheritance by Morgan and his colleagues because
(A) It reproduces parthenogenetically
(B) It completes life cycle in about two weeks
(C) A single mating produces two young flies
(D) Smaller female is easily recognizable from larger male
6 Pedigree analysis can help in tracing which of the following set of genetic disorders?
 For example:
 When pea plant bearing round yellow seeds is crossed with wrinkled green seed pea
plant, in the F1 generation round yellow seeds are produced.
 When F1 hydrids are selfed, in the F2 generation we get parental as well as new
combinations in 9:3:3:1 ratio.
 This because the alleles of seed colour assort independent to that of seed shape.

Parents: Round yellow vs Wrinkled green

Genotype: RRYY rryy

Gametes:

F1 generation: RrYy

Round yellow
Selfing F1 hybrids
Round yellow vs Round yellow

RrYy RrYy

Gametes: RY, Ry, rY, ry RY, Ry, rY, ry

F2 generation
RY Ry rY Ry
♂
♀
 RY RRYY RRYy RrYy RrYy
Round Round Round Round
yellow yellow yellow yellow

Ry RRYy RRyy RrYy Rryy

Round Round Round Round
yellow green yellow green

rY RrYy RrYy rrYy rrYy

Round Round wrinkled wrinkle
yellow yellow yellow d yellow

ry RrYy Rryy rrYy Rryy

Round Round wrinkled wrinkle
yellow green yellow d green

Phenotype:
Round yellow seeds =9
Round green seeds =3
wrinkled yellow seeds =3
wrinkled green seeds =1

Q ) A true breeding pea plant homozygous for axial violet flowers (AAVV) is crossed
with another pea plant with terminal white flowers (aavv).

(i)What would be the phenotype and genotype of F1 and F2 generation?

(ii)Give the phenotypic ratio of F2 generation.

(iii)List the generalizations of Mendel that can be derived from the above cross.

Ans: Hint: Work out like above example

(i)Phenotype of F1 generation-all axial violet flowers

Genotype of F1 generation –AaVv

(ii)Phenotypic ratio of F2 generation 9:3:3:1

(iii)Law of independent assortment

Q) A true breeding pea plant homozygous for inflated green pods is crossed with
another pea plant with constricted yellow pods (ffgg).

(i)What would be the phenotype and genotype of F1 and F2 generation?

(ii)Give the phenotypic ratio of F2 generation.

(iii)List the generalizations of Mendel that can be derived from the above cross.

1. Test cross

(A)Down’s Syndrome & Klinefelter’s syndrome

 It is done to find out the genotype of a dominant phenotype individual. The given
individual is crossed with a homozygous recessive individual.

For example:
In pea plant purple flower colour is dominant over white flower. Findout genotype of
purple flower.
Case I:
 Cross purple flower plant, with a (homozygous) recessive plant with white
flowers

Parents: Purple flower vs white flower

Genotype: PP pp

Gametes:

Progeny: Pp
Purple

All the flowers of the progeny are purple, so the plant is homozygous dominant i.e. pure
breed.
Case II:

Parents: Purple flower vs white flower

Genotype: Pp pp

Gametes:
 Progeny: Pp pp
Purple White

Progeny has purple: white flowers in 1:1 ratio. So, then plant is heterozygous
dominant.

Q) In a particular plant species, majority of the plants bear purple flowers. Very few
plants bear white flowers. No intermediate colours are observed. If you are given a plant
bearing purple flowers, how would you ascertain that it is a pure breed for that trait?
Explain.

1. Incomplete dominance:In a Hybrid the allelic pair responsible for a trait is in

heterozygous condition. Neither of the alleles is recessive nor dominant. They
partially express and produce an intermediate phenotype of the parentsin F1
generation.

Snapdragon

(B)Myotonic dystrophy & Sickle cell anaemia

(C)Turner’s syndrome &Haemophilia
(D) Klinefelter’s syndrome & Turner’s syndrome
7 In a certain species of insects, some have 13 chromosomes, and the others have
14chromosomes.The 13 and 14 chromosome bearing organisms are
(A)Males and females, respectively (B) Females and males, respectively
(C )All males (D) All females
8 Which of the following combination of chromosome numbers represents the correct
sex determination pattern in honey bees?
(A)Male 32, Female 16
(B) Male 16, Female 32
(C)Male 31, Female 32
(D)Female 32, Male 31
9 Which of the following statements indicates parallelism in genes and chromosomes?
(i) They occur in pairs
(ii) They segregate during gamete formation
(iii) They show linkage
(iv) Independent pairs segregate independently
(A) (i) and (iii)
(B) (ii) and (iii)
(C ) (i), (ii) and (iii)
(D) (i), (ii) and (iv)
10 Rajesh and Mahesh have defective haemoglobin due to genetic disorders. Rajesh
has too few globin molecules while Mahesh has incorrectly functioning globin
For example: Flower colour in Snapdragon/Antirrhinum

Parents : Redflower vs white flower

Genotype: RR rr

Gametes:
R r

F1 generation: Rr
Pink

Selfing of Fi hybrids
 Pink Pink

Rr vs Rr

Gametes: R r
r R r
r
F2 generation: r r

RR Rr Rr rr

Gamete R r
R RR Rr
( Red) ( Pink)
r Rr rr
(Pink) (White)
F2 generation:

Phenotype ratioà red: pink: white = 1:2:1

Genotypic ratioàRR:Rr:rr = 1:2:1

Multiple alleles and allelism:

5
 • More than two allelic forms of a gene determine certain traits like blood group in

human. These alleles are called multiple alleles and the inheritance pattern of these

allesles is called multiple allelism.

• Blood group gene ‘I’ has three alleles - I A , I B and i.

• But an individual with a specific blood group possess only two of such alleles

• The genotypes of 4 blood groups are:

A group genotype → I AI A or I Ai.

B group genotype → I BI B or I Bi.

A B group genotype → I AI B

O group genotype → ii.

• These alleles exhibit dominance and co-dominance.

I A I B are dominant and i is recessive.

Co-dominance :

CODOMINANCE 2M

In a Hybrid the allelic pair responsible for a trait is in heterozygous condition.

Neither of the alleles is recessive nor dominant. They express side by side and

produces phenotype resembling both the parents.

For example: In AB blood group both I A and I B genes equally influence the formation of

antigens A and B.

Parents : Father ‘A’ group vs Mother ‘B’ group

Genotypes IAIA IBIB

Gametes IA IB

IAIB

molecules.Identify the disorder they are suffering from.

 AB group

Q) A man with blood group A married a woman with B group. They have a son with
AB blood group and a daughter with blood group O. Work out the cross and show
the possibility of such inheritance.

Ans: Since, son has blood group AB and daughter has blood group O then the possible

genotype of man will be IA i and that of female will be IB i. The desired cross would be

as follows:

Parents :

Man vs woman

Genotypes IAi IBi

IB i
IA i
Gametes IA

F1 generation

gametes IA i
B A B
I I I IBi
AB group B group
i IAi ii
A group O group
Thus, the F1 progeny can have all the four possible blood groups, i.e., A, B, AB and O.

PLEIOTROPY:
8
Multiple effects of a single gene is pleitropy. That means a single gene is able to control
more than one trait.

Example 1: In pea plant a single gene controls shape of the seed as well as size of the
seed.

It has 2 alleles B and b.

B is more efficient in starch synthesis than b. So, B is dominant over b.

Parents :

Round large seeds vs wrinkled small seeds

Genotype: BB bb

Gametes: B b
F1 generation: Bb

Round medium seeds

Gamete B b Selfing of Fi
B BB Bb hybrids
Round Round
large medium Bb vs
b Bb bb Bb
Round wrinkled
medium small Round medium
Round medium

Gametes:
B b B b

BB Bb Bb bb

F2 generation:

Phenotype ratioRound large : Round medium: wrinkled small = 1:2:1

Example 2: - Phenylketoneuria : It is a metabolic disorder caused by autosomal

recessive allele. In normal individuals the gene is functional and it produces phenyl
alanine hydroxylase enzyme, which converts phenylalanine into tyrosine. In
phenylketonuria patients , in the absence of the enzyme, phenyl alanine gets converted
into phenyl pyruvate and its derivatives. These get accumulated in the brain causing
mental retardation. Other effects of it are reduction in hair growth and skin pigmentation.

There is no cure for PKU, but treatment can prevent intellectual disabilities and other
health problems.
Polygenic inheritance:

• Certain traits in human like skin colour, height and intelligence are controlled by more

than 2 genes. These genes are called polygenes and the inheritance pattern is known as

polygenic inheritance.

• These gens exhibit continuous variations and produce a bell shaped curve in F2
generation.

• They show cumulative effect on phenotype. Greater the No. of dominant genes , higher

the phenotypic expression. That’s why it is also known as quantitative inheritance.

• Skin colour in human is determined by 3 genes ( 3 pairs of alleles Aa, Bb ,and Cc)

The person with all 6 dominant alleles ( AABBCC) has dark colour

The person with all 6 recessive alleles ( aabbcc) has white colour

The person with 3 dominant alleles ( AaBbCc) has intermediate colour.

Parents : Darkest vs Fairest

Genotype: AABBCC aabbcc

Gametes: ABC abc

F1 generation: AaBbCc
Intermediate colour

Selfing of Fi hybrids

AaBbCc vs AaBbCc

ABC, ABc,AbC,Abc ABC, ABc,AbC,Abc

aBC, aBc,abC,abc aBC, aBc,abC,abc

Fairest Darkest
Chromosomal theory of inheritance:

Sutton and Boveri proposed the theory.

Main concepts:

• Genes are arranged in linear order on chromosome.

• In a dipoid individual, the homologous chromosomes occur in paired condition. So also

the genes responsible for a trait occur in paired condition as they are present on
homologous chromosomes.

• At the time of gamete formation meiosis occurs. So, chromosomes pairs as well as gene
pair separate and move to gametes. Hence the gemetes are haploid

• The paired condition of the chromosomes/ genes gets restored by fertilization process.

T.H. Morganexperimentally verified chromosomal theory of inheritance by working on

Drosophila mealnogstor.

A) Reasons for selecting Drosophila for genetic experiments by T.H. Morgan.

• It can be grown on simple synthetic medium in a lab.

• They have short life span of about 2 weeks. So, several generations can be

Studied.

• Single mating produces large number progeny.

• Phenotypic characters can be observed easily with low power microscope.

B) Linkage and recombination:

Morgan carried out dihybrid cross b/w a yellow body,white eye female and brown
body,red eye male.
 He did not get in F2 generation 9:3:3:1 ratio.

He explained this deviation by a phenomenon called linkage and recombination

• Genes which are closely placed on a chromosome would tend to move

together to the offspring as a single block of genes. This phenomenon is

known as linkage and the genes are called linked genes.

• Linked genes produce more parental combinations and less recombinants ( non-parental
or new combinations).

• Tightly linked genes produced only less (1.3%) recombinants. Eg: Body

colour and eye colour genes.

• loosely linked genes produced more (37% ) recombinants.Eg: body color

and wing size genes .

• Genes that are present on different chromosomes or widely placed on a

chromosome would tend to separate independently and produce recombinants.

MCQ ANSWERS
1 (C)50%Pink: 50%White
2 (C) Autosomal recessive
3 (B)Evening primerose
4 (A)Aneuploidy
5 (B) It completes life cycle in about two weeks
6 (B)Myotonic dystrophy & Sickle cell anaemia
7 (A)Males and females, respectively
8 (B) Male 16, Female 32
9 (D) (i), (ii) and (iv)
10 (B) Thalassemia -An autosome linked recessive blood disorder.
C) Gene mapping 2m/3m

• Determing the sequence of genes on a chromosome is gene mapping

-Alfred Sturtevant used recombination frequency to determine the position

of genes on a chromosome.

-percentage of recombination ∝ distance between the genes on a

chromosome.

- Gene maps are used in sequencing of human genome.

Q) Make a gene between B, C and D genes. When recombination frequency b/w
B&C=7%, b/w B&D= 4% and C&D=3%

4% 3%

B D C

7%
Sex determination:

a) Male heterogamy : Male produces two types of gametes.

Example 1:

XX- XY type of sex determination in humans and Drosophila

• Male is heterogametic produces two types of sperms i.e. ‘X’ and ‘Y’ sperms, hence
decides the sex of new born child.

• Female produces only one type of eggs i.e. ‘X’ eggs, hence it is homogametic

• When Y sperm fertilizes with X egg, a boy ( XY) is born. When x sperm fertilizes with

x egg, a girl ( XX) is born.

Or

Father Vs Mother

Genotype: XY XX

Gametes:
x Y x x
Progeny:

XX XY

Girl Boy

Example 2:

XX- XO type of sex determination in grosshopper

• Male has XO chromosomes and produces 2 types of sperms one with X chromosome

and the other without X chromosome.

Father Vs Mother
Genotype: XO XX

Gametes:
X O X X

Progeny: XX XO

Female Male
b) Female heterogamy: Female produces two types of gametes.

Example: ZZ-ZW mechanism in birds

• Female is heterogametic and produces two types of eggs i.e. ‘Z’ and ‘W’ eggs. Female

determines the sex of the offspring.

• Male produces only one type of sperms i.e. ‘Z’ sperms, hence it is homogametic

• When W egg fertilizes with Z sperm , a female(ZW) is born. When Z egg fertilizes

with Z sperm , a male(ZZ) is born.

Female bird vs Male bird

Genotype: ZW ZZ

Gametes:
Z W Z Z

Progeny:

ZZ ZW

Male Female

c) Haploid-diploid mechanism in honey bee

• There are 3 types of bees- Queen, Workers and Drones

• Queen and Workers are developed from fertilized eggs. So, they are diploid with

32 chromosomes.

• The drones(males) are developed from unfertilized eggs parthenogetically . So,

they are haploid with 16 chromosomes.

Queen(2n) Drone(n)
Chromosomes: 32 16

Gametes:
16
16 16

Progeny: PARTHENOGENESIS FERTILIZATION

16 32

MALE FEMALE
Q) In our society the women are blamed for giving birth to daughters. Can you
explain why this is not correct?

Ans:Hint: Expain sex determining mechanism in human

Q) What is female heterogamy? Is the egg or sperm responsible for the sex of
individual in humans?

Ans:Hint: Expain sex determining mechanism in birds

Q3) The male fruit fly and female fowl are heterogametic while the female fruit fly
and the male fowl are homogametic. Why are they called so?

Ans: The male fruit fly has XY sex chromosomes and produces two types of gametes
hence it is called heterogametic while female fowl has ZW sex chromosomes thereby
producing two types of gametes thus they are called heterogametic.

Female fruit fly has two X chromosomes, i.e., XX and produces similar gametes hence
they are called homogametic. Also, male fowl has two Z chromosomes and produces
similar gametes thus they are called homogametic.
MUTATION

A sudden, heritable, permanent and irreversible change in DNA sequences resulting in

changes in the

genotype and the phenotype of an organism is called mutation.

Mutation is 2 types:

1.Gene Mutation: Mutation within a gene. It may be:

a. Deletion-A part of gene is deleted

b. Duplication-A part of gene is deleted and joined on the sister chromatid

c. Insertion-One or more pair of nucleotides are inserted within the gene.

d. Substitution-One or more pairs of nucleotides are replaced by the same number of
nucleotide pairs. It may be transition or transversion.

i. Transition- If purine is replaced by purine and pyrimidine is replaced by pyrimidine.

ii. Transversion- If purine is replaced by pyrimidine and vice versa

Point mutation: The mutation due to change (substitution) in a single base pair of DNA.
E.g. sickle cell anaemia.

Frame-shift mutation: It is the deletion or insertion of base pairs resulting in the shifting
of DNA sequences.

2.Chromosomal Aberration- Mutation among the genes (a part of a chromosome or

DNA segment)

1.Loss (deletion) or gain (insertion/ duplication) of DNA segment cause Chromosomal

abnormalities (aberrations).

2.When there is a change in chromosomal number that leads to

a. Aneuploidy-Gain or loss of one or two chromosomes. This may be

i. Nullisomy- 2n – 2

ii. Monosomy- 2n – 1

iii. Trisomy- 2n + 1

iv. Tetrasomy- 2n + 2

b. Polyploidy-Gain of one or more sets of chromosomes. It may be

i. Triploidy- 2n + n

ii. Tetraploidy- 2n + 2n

Chromosomal aberrations are seen in cancer cells. The agents which induce mutation are
called mutagens. They include

-Physical mutagens: UV radiation, α, β, γ rays, X-ray etc.

-Chemical mutagens: Mustard gas, phenol, formalin etc.

Genetic disorders :

Mendelan disorders( gene Chromosomal disorders

disorders)
Caused due to change in base Caused due to addition or deletion
sequence of a gene or mutation of a of individual chromosomes or
gene addition or deletion of complete set of
chromosomes from the diploid
condition
- Do not follow
 -Follow Mendilian principles of - They are always dominant in
inheritance nature
-they may be recessive or - Downs syndrome, turners
dominant in nature syndrome
EG: haemophilia, Sickle cell
anaemia
Mendelian disorders(gene disorders): Colour blindness, Haemophilia, Phenyl
ketoneuria ,sickle cell anaemia, Thalassemia

i) Sickle-cell Anaemia

- It is an autosomal linked recessive allele disorder.

- Both males and females are equally affected.

- It is controlled by a pair of alleles-HbA and HbS

HbA>HbS

- Only the homozygous individuals (HbSHbS ) show the disease.

- The heterozygous individual are carriers (HbAHbs )

How it is caused

- Due to point mutation, Glutamic acid (Glu) is replaced by Valine (Val) at sixth

positions of beta globin chain of haemoglobin molecule.

- The mutant haemoglobin undergoes polymerization under low oxygen tension

making RBC to become sickle-shaped. As a result, the RBC cannot pass through

narrow capillaries. Blood capillaries are clogged and thus effects blood supply to

different organs .

Sickle-cell anaemia an autosome linked recessive disorder.

ASSERTION AND REASON
The following questions consist of two statements-Assertion (A)and Reason ( R).Answer these questions
selecting the appropriate option given below.
(a) Both Assertion (A) and Reason (R) are true and Reason (R) is the
correct explanation of the Assertion (A).
(b) Both Assertion (A) and Reason (R) are true, but Reason (R) is not
Phenotype : Carrier mother vs Carrier father

Genotype: HbAHbS HbAHbs

Gametes: HbA , Hbs HbA , Hbs

Progeny:

gametes HbA HbS

HbA HbAHbA HbAHbS
Normal Carrier

HbS HbAHbS HbsHbS

Carrier Sickle
cell
anaemic
Ratio of Normal: carrier, sickle cell anaemic = 1:2;1

2.Haemophilia (Royal disease):

It is a sex linked (X-linked) recessive disease. In this, a protein involved in the blood
clotting is affected.

A simple cut results in non-stop bleeding. The disease is controlled by 2 alleles, H & h. H
is normal

allele and h is responsible for haemophilia.

X X -Normal female
 X X h -Heterozygous female (carrier). She may transmit the disease to sons.

X hX h -Hemophilic female

X Y -Normal male

X hY -Hemophilic male

In females, haemophilia is very rare because it happens only when mother is at least
carrier and father haemophilic (unviable in the later stage of life). Queen Victoria was a
carrier of hemophilia. So her family pedigree shows many haemophilic descendants.

Colour blindness:

1.It is a sex-linked (X-linked) recessive disorder due to defect in either red or green cone
cells of eye.

2.It results in failure to discriminate between red and green colour.

3.It is due to mutation in some genes in X chromosome.

4.It occurs in 8% of males and only about 0.4% of females. This is because the genes are
X-linked.

5.Normal allele is dominant (C). Recessive allele (c) causes colour blindness. The son of
a heterozygous woman (carrier, XCX c ) has a 50% chance of being colour blind. A
daughter will be colour blind only when her mother is at least a carrier and her father is
colour blind (XcY)

the correct explanation of the Assertion (A).

(c) Assertion (A) is true, but Reason (R) is false.
(d) Assertion (A) is false, but Reason (R) is true.
11 Assertion(A):In Thalassemia is an abnormal myoglobin chain is synthesized due to a gene
defect.
Reason(R):Alpha Thalassemia is controlled by genes HBA1 and HBA2 on chromosome 16.
12 Assertion(A): Incomplete Dominance can be seen in Snapdragon.
Reason (R ): The phenotype and genotype ratios are similar in incomplete dominance.
13 Assertion (A): When white eyed, yellow bodied Drosophila females were hybridized with
 Thalassemia

• It is autosome linked recessive allele disorder

• The defective or mutated gene synthesizes either less α or less β globin chains.

• Because of this less Hb will be synthesized causing anaemia . Hence, it is also called

quantitative disorder of Hb.

• There are 3 types

α thalassemia β thalassemia

Few α chains are synthesized Few β chains are synthesized

-extra β globin chains produced are - extra α globin chains bind to RBC
unstable and they form tetramers, membrane and damage it.
which cause abnormal oxygen
disassociation curve

-Caused by 2 genes HBA1 and HBA2 - Caused by a genes HBB present on 11th
present on 16th chromosome chromosome

- severity of the disease is directly

proportional to the No. of defective
genes
Delta ( ) Thalassemia

Alpha and beta chains being present in haemoglobin, about 3% of adult hemoglobin is
made of alpha and delta chains. Just as with beta Thalassemia, mutations can occur which
affect the ability of this gene to produce delta chains.

Differences b/w Sickle cell anaemia and thalassemia

sickle cell anemia is a qualitative disorder of Hb, wherein defective globin is produced.

Thalassemia is quantitative disorder of Hb, wherein few Hb molecules are produced.

red eyed, brown-bodied males; and F1 progeny was intercrossed, F2 ratio deviated
Sex linked inheritance/ X-linked inheritance:

Alleles present on sex chromosomes (X and Y) inherit along with the sex chromosomes.

Example 1:

Haemophilia: is caused due to the recessive allele present on X-chromosome. In these

individuals the recessive allele fails to produce a clotting protein. So, blood fails to clot
when there is a minor injury to blood vessels. This leads to profuse bleeding and death

• Father passes the allele to only to daughters but not to sons, as the son inherits Y

chromosome from father. Mother passes this allele to both sons and daughters.

• More males affected than females by this disorder.

- Females with single dose of haemophilic allele act as carriers (XhX) and with double
dose of the allele are haemophilic (XhX h ).

-While males with single dose of this allele (XhY )are haemophilic as they possess only
one X chromosome.

• Females are rarely haemophilic, as they require double dose of this allele.

This is possible only when father is haemophilic ( who may not reach to reproductive age)
and mother is at least a carrier.

Example:

Phenotypes : Carrier mother vs normal father

Genotype: (Xh X) (XY)

Gametes: Y
Xh X X

Progeny:

XhX XhY XX XY

gametes Xh X
X XhX XX
Carrier Normal
daughter daughter

Y XhY XY
Haemophilic Normal
son son
25% daughter normal (XX)
 25% daughter carrier (XhX)

25% son normal (XY)

25% son haemophilic (Xh Y)

R) A non-haemophilic couple was informed by their doctor that there is possibility
of a haemophilic child be born to them. Draw a checker board and find out the
percentage of possibility of such child in the progeny.
Q2) Explain the possibility of daughters becoming haemophilic with an example.

Phenotypes : Carrier mother vs Haemophilic father

Genotype: (Xh X) (XhY)

Gametes: X hX XhY

Progeny:

gametes Xh X
Xh XhXh XhX
Haemophili carrier
c daughter
daughter

Y XhY XY
Haemophili Normal
c son son
Example2:

Colour blindness

It is an X linked recessive allele disorder Xc .

Persons with colour blindness fail to differentiate generally red and green colours.

substitute Xh allele( haemophilic allele) with Xc allele( colour blind allele) for rest of the

explanation

Q) A normal visioned woman, whose father is colour blind, marries a normal

visioned man.what would be the probability of her sons and daughters to be colour
blind?

Hint: Woman is carrier for colour blindness, as her father is colour blind.

Solve the problem just like haemophilia by substituting Xh allele( haemophilic allele) with
Xc allele( colour blind allele).

from 9 : 3 : 3 : 1.
Reason ( R): When two genes in a dihybrid are on the same chromosome, the
proportion of parental gene combinations is much higher than the non-parental type.
14 Assertion (A ): Genetic make up of sperm determines the sex of human child.
 c) Chromosomal disorders: They are of 2 types

Aneuploidy Euploidy/polyploidy

-Addition or deletion of individual Addition or deletion of complete

chromosomes from 2n condition . set of chromosomes from 2n
2n+1=trisomy condition .
2n - 1= monosomy 2n+n =triploidy
 Failure of segregation of 2n - n= monoploidy
chromatids during cell division -Failure of cytokinesis after
cycle results in the gain or loss of telophase of cell division results
individual chromosomes( Noo- in polyploidy
dysjunction of homologous pair
during anaphase of cell division)
Examples of chromosomal disorders
Down’s syndrome( Klinefelter’s syndrome Turner’s syndrome
Mangolian idiocy) syndrome

-Caused by an extra -caused by an extra X -caused by the

autosome.Trisomy of 21st chromosome. Show 44+ absence of one of the
chromosome results in XXY karyotype with total x chromosomes.
total 47 chromosomes. Show 44+ XO
47 chromosomes.
- both males and females karyotype with a total
are equally affected. - only males are affected 45 chrommosomes.

-Symptoms: -Symptoms: - Only females are

* The individual is short * individual has overall affected
statured with small round masculine development.
head, furrowed tonghu& * also express feminine -Symptoms:
development like * Sterile females
partially open mouth,
development of breast, i.e., * Rudimentary ovaries
* Palm is broad with *Lack of secondary
characteristic palm crease gynaecomastia.
sexual characters
*Physical, psychomotor *they are sterile.
and mental development is
retarded.

Reason (R ): Males are homogametic in humans.

15 Assertion (A): Starch grain size is controlled by gene B in pea seed is an example of
 incomplete dominance.
Reason (R ): Starch grain formed by genetic constitution Bb is of intermediate size.
ANSWERS
11d 12 b 13a 14c 15 a
SECTION-B (2Marks)
16 In Mendel’s breeding experiment on garden pea, the offspring of F2 generation are obtained in
the ratio of 25% pure yellow pod, 50% hybrid green pods and 25% green pods.
State (i) which pod colour is dominant (ii) Workout the cross.
ANS;
i) Green pod colour is dominant.
ii)
 Pedigree analysis:
13
Study of inheritance of traits in human family for several generations and depicting these
in the form of a family tree is pedigree analysis.

Significance in human :

-It is done in human as they long life span and studying several generations is not

possible.

- Controlled matings is not possible.

Uses:

- It prevents inheritance of harmful genetic traits by councelling prospective parents

- We can predict harmful effects of closely related individuals who act as carriers.

- We can predict the origin of a genetic trait and its flow through the generations.

- This analysis is widely used in medical research.

Types of pedigree charts:

a) Autosomal dominant pedigree chart:

One of the parent show the disorder

Disorder is seen in each generation

Ex: myotonic distropy

b) Autosomal recessive allele pedigree chart:

Neither parent show the disorder as they are heterozygous

Both sons and daughters are equally affected

Ex: Sickle cell anaemia

c) Sex linked recessive allele pedigree chart:

Neither parent show the disorder as they are heterozygous

More sons affected than daughters

Ex: Haemophilia
Q1.

Study the pedigree chart and answer the questions

(a) Is the trait recessive or dominant? Recessive

(b) Is the trait sex-linked or autosomal? Autosomal

(c) Give the genotypes of the parents in generation I and of their third and fourth child in

generation II.

Parents : mother Aa vs Father Aa

3 rd child aa

4 th child Aa

Q2

Haemophilia is a sex linked recessive disorder of humans. The pedigree chart given
shows the inheritance of haemophilia in one family. Study the pattern of inheritance and
answer the 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 carrier of haemophilia. The member

numbered 15 has recently married the member numbered 14. What is the probability that
 their first child will be a haemophilic male?

(a) Genotypes of member 4 – XX or XX h

Genotypes of member 5 – X h Y

Genotypes of member 6 – XY

(b) The probability of first child to be a haemophilic male is 25%.

Q3 Study the following pedigree chart of a family, starting with mother with AB blood group
and father with O blood group.

(a) Mention the blood group as well as its genotype of the offspring numbered 1 in
generation II.

(b) Write the possible blood groups as well as their genotypes of the off springs numbered
2 and 3 in generation

III

a) In generation II-----Blood group B; Genotype - I B i

b) In generation III----- No.2 Blood group = A; Genotype = I A i

No.3 Blood group - 'AB' Genotype → I A I B

Phenotypic ratio 3 : 1 (1+1=2)

Genotypic ratio 1 : 2 : 1
17 Study the given figure and answer the questions that follow.
 a)Name disorder that is shown in the figure.
b) How is this disorder inherited?
c)What is the cause of this disease?
d)What are the possible phenotypes of children born to a couple of Carrier woman and
hemophilic man.
ANS;
(a) Sickle cell anemia.
(b) Inherited as Autosome linked recessive trait.
(c) Substitution of Glutamic acid by Valine at the sixth position of the beta globin chain
of the hemoglobin molecule.
d)Normal, Carrier and Sickle celled children. (4*1/2=2)
18 Study the figures given below and answer the question.

Identify in which of the crosses is the strength of linkage between the genes higher.
Give reasons in support of your answer.
ANS;In CrossA
Because the genes are closely placed. Lesser the distance (1+1=2)
19 During a study an infant’s karyotype was found to possess an extra chromosome .
 a)Name the disorder which an infant is suffering from.Mention any 2 the symptoms the child is
likely to develop later in the life.
b)What will be the genotype of the person suffering from this disease?
c)State its cause.
ANS;
(a)X= Down’s syndrome , Short stature,Low IQ(Any 2) (4*1/2=2)
(b)genotype of male= 45 +XX/45+XY
c) cause- inheritance of extra 21st chromosome

20 The diagram below shows the sequence of amino acids in part of a haemoglobin molecule.

a)If the base T* was substituted with A, how would it affect the haemoglobin chain?
b) Name the condition and the effects associated with the above substitution.
ANS;
CTT would become CAT which codes for valine.
Thus ,valine would replace glutamic acid at that point and causes point mutation.
(1+1=2)
3MARKS
21 ‘The cytological observations made in a number of insects led to the development of the concept
of genetic/ chromosomal basis of sex determination mechanism. Honeybee is an interesting
example to study the mechanism of sex-determination. Study the schematic cross
between the male and the female honeybees given below and answer the questions that follow:

(a) Identify the cell divisions ‘A’ and ‘B’ that lead to gamete formation in female and male
honeybees respectively.
(b) Name the process ‘C’ that leads to the development of male honeybee (drone).
(c)If the no. of chromosome in male honeybee is 48 and female honeybee is 32 than find no. of
chromosome in their progeny which is form by fusion of gametes.
ANS ;
(a) ‘A’ Meiosis and ‘B’- Mitosis
(b) ‘C’- Parthenogenesis- ovum develops into an individual without fertilisation. (3*1=3)
(c) 64
22 Study the given pedigree chart and answer the questions that follow.
 (a) Is the trait given in the chart dominant or recessive ? Give reason in
support of your answer.
(b) Is this trait autosomal or sex-linked ? Give reason in support of
your answer.
(c) Write the possible genotypes of the children numbers’1 and 3’ of
the second generation.

ANS;
(a) Recessive trait, both the parents in generation I do not express the trait yet it appears in the
progeny.
(b) Autosomal trait, both male and females have equal chances of getting the trait.
(c) Child ‘1’ : Aa/AA , Child ‘3’ : Aa (1+1+1+1=3)

23 The following pedigree chart shows the inheritance of a genetic disorder

up to three generations of a family. Observe the chart and answer the
questions that follow.

(i) Is the disease sex-linked or autosomal as per the chart ? Give reasons in support of your
answer.
(ii) Is it a recessive or a dominant disorder ?
(iii)Write the genotypes of the individuals ‘C’, ‘D’ and ‘ H’.
ANS;
(i) Sex linked disorder.More males are affected in the family as males have only one X
chromosome which if affected expresses
(ii) Recessive disorder
(iii) C -XXc ; D- XXc ; H- XXc (1+1+1=3)
24 Observe the diagram given below and answer the following questions-
 (a) What is this cross known as? Write the genotype of the F1 generation.
(b) Based on the above observations Mendel proposed two general rules. what are
these rules?
(c) When does a geneticist need to carry out the above cross?What ratio did you
get from the above cross?
ANS;
(a) Test cross.F1 Genotype-Ww
(b) law of dominance,law of segregation
(c) to study the unknown genotype of the parent. ratio =1 : 1. (1+1+1=3)
25 A woman with blood group O married a man with AB group. Show the possible blood groups of
the progeny. List the alleles involved in this inheritance.
ANS;
Female O * Male AB
ii IA IB
Gametes i
Progeny IA IB

Gametes IA IB
IAi IBi
i
Blood group of progeny;A,B andO
Alleles involved ;IA,IB and I. (1+1+1=3)
CASE BASED QUESTIONS
26 The chromosome number is fixed for all normal organisms leading to species specification
whereas any abnormality in the chromosome number of an organism results into abnormal
individuals.For example ,in humans 46is the fixed number of chromosomes both in male and
female .In maleit is 44+XY and in female it is 44+XX.Thus the human male is heterogametic ,in
other words produces two different types of gametes one with 22+X chromosomes and the other
with 22+Y chromosomes respectively. Human female, on the other hand is homogametic i.e
produces only one type of gamete with 22+X chromosomes only.
Sometimes an error may occur during meiosis of cell cycle, where the sister chromatids fail
to segregate called nondisjunction, leading to the production of abnormal gametes with altered
chromosome number. On fertilization such gametes develop into abnormal individuals.
(a)State what is aneuploidy.
 (b)If during spermatogenesis ,the chromatids of sex chromosomes fail to seggregate during
meiosis ,write only the different types of gametes with altered chromosome number that could
possibly be produced.
(c )A normal human sperm (22+Y) fertilises an ovum with karyotype 22+XX.Name the disorder
the offspring thus produced would suffer from and write any 2 symptoms of the disorder.
(OR)
( C)Name a best known and most common autosomal aneuploid abnormality in human and write
any 2 symptoms.
ANS;
(a) Gain or loss of chromosome due to failure of segregation of chromatids during
cell division cycle is known as aneuploidy. (1)
(b) 22 + XY, 22 + 0 (1)
(c) Klinefelter’s syndrome (1)
Gynacomastia/ feminine development, sterile individual, tall stature, overall masculine
development (Any two) (1/2+1/2=1)
OR
(c) Down’s Syndrome:
Short statured with small round head , furrowed tongue , partially open mouth , broad palm
with palm crease , physical/ psychomotor/mental retardation , flat back of head , loops on
finger tips , congenital heart disease , big and wrinkled tongue , broad flat face
(Any two)
27

Observe the above F2 generation Results of two dihybrid crosses conducted by

Morgan and answer the following questions-
(i)What do the above crosses ‘A’ and ‘B’ illustrate?
(ii) What does (+) sign in superscript represent?
(iii)How is the strength of linkage between y and w is different than w and m.
(iv)What is the strength of linkage with increase in age?
ANS;
(i) Cross A shows crossing between gene y and w; Cross B shows crossing between genes w and
m.
(ii) (+) sign in superscript represent dominant wild type alleles
(iii) The strength of linkage between y and w is higher than w and m.
(iv) increases. (4*1=4)
28 Read the following and answer any four questions from 28(i) to 28(v) given below:Answer any 4.
Sickle cell anemia is a genetic disorder where the body produces an abnormal hemoglobin called
hemoglobin S. Red blood cells are normally flexible and round, but when the hemoglobin is
defective, blood cells take on a “sickle” or crescent shape. Sickle cell anemia is caused by
mutations in a gene called HBB. It is an inherited blood disorder that occurs if both the maternal
and paternal copies of the HBB gene are defective. In other words, if an individual receives just
one copy of the defective HBB gene, either from mother or father, then the individual has no
sickle cell anemia but has what is called “sickle cell trait”. People with sickle cell trait usually do
not have any symptoms or problems but they can pass the mutated gene onto their children. There
are three inheritance scenarios that can lead to a child having sickle cell anemia:
- Both parents have sickle cell trait
- One parent has sickle cell anemia and the other has sickle cell trait
- Both parents have sickle cell anemia
i Sickle cell anemia is a/ an ______________________ disease.
a. X linked b. autosomal dominant c. autosomal recessive d. Y linked
ii If both parents have sickle cell trait, then there is _______________of the child having sickle cell
anemia.
a. 25 % risk b. 50 % risk c. 75% risk d. No risk
iii If both parents have sickle cell trait, then there is _______________of the child having sickle cell
trait. a. 25 % risk b. 50 % risk c. 75% risk d. No risk
iv If one parent has sickle cell anemia and the other has sickle cell trait, there is __________that
their children will have sickle cell anemia and ___________will have sickle cell trait. a. 25 %
risk, 75% risk b. 50 % risk, 50% risk c. 75% risk, 25% risk d. No risk
v

The following statements are drawn as conclusions from the above data (Kenya). I. Patients with
SCD (Sickle Cell Disease) are less likely to be infected with malaria.
II. Patients with SCD (Sickle Cell Disease) are more likely to be infected with malaria.
III. Over the years the percentage of people infected with malaria has been decreasing.
IV. Year 2000 saw the largest percentage difference between malaria patients with and without
SCD.
Choose from below the correct alternative.
a. only I is true
b. I and IV are true
c. III and II are true
d. I and III are true
ANS;
i c. autosomal recessive
ii a. 25 % risk
iii b. 50 % risk
iv b. 50 % risk, 50% risk
V I and III are true (4*1=4) Any FOUR.
5 Marks
29 A homozygous tall pea plant with green seeds is crossed with a homozygous dwarf pea plant with
yellow seeds.
(i) Write the possible phenotype and genotype of F1 generation.
(ii) Work out the phenotypic ratio of F2 generation with the help of a Punnett Square.
(iii) Mention the F2 phenotypic ratio along with their possible phenotypes.
ANS;
(i) Phenotype of F1—Tall plants with yellow seed.
Genotype of F1 generation TtYy

(ii)

(ii)Phenotypic ratio of F2 generation:

Tall plants with Yellow seeds =9
Tall plants with green seeds =3
Dwarf plants with yellow seeds =3
Dwarf plants with green seeds =1 (1+1+2+1=5)
30 (i) Why is sickle cell anaemia ,a human blood disorder so named?
(ii)Explain the genetic basis that results in the expression of this disorder.
(iii)Work out a cross to explain how normal parents may have a sickle cell anaemic child.
ANS;
(i) The RBC in such patients takes up a sickle shape instead of biconcave (1)
(ii) The defect is caused by the substitution of Glutamic acid (Glu) by Valine(Val),at the sixth
position of the beta globin chain of the haemoglobin molecule.The substitution of amino acid in