GENETICS

PRINCIPLES OF
INHERITANCE AND
VARIATIONS

1
 INTRODUCTION (GENETICS)
 Genetics term was given by W. Bateson.
 Genetics :- Collective study of heredity and Variations.
 Heredity :- Study of transmission of genetic characters
from parent to offspring's.
 Variation :- Differences that are seen among the
members of same species.
 Inheritance :- It is the process by which genetic
characters are transfer from parent to offspring's.

2
 HISTORY OF RESEARCHES IN GENETICS
 Gregor Johann Mendel :- Father of Genetics.
 W. Bateson :- Father of Modern Genetics.
• He proposed various term like Genetics, Allele , Homozygous,
Heterozygous.
 T. H. Morgan :- Father of Experimental genetics
• He performed experiments on Drosophila.
A
• He proposed various concepts like Linkage, Sex linkage, Crossing
B
over, Criss - cross inheritance.
C
• He suggested that genes are linearly arranged on chromosome.

D
E
F
3
 HISTORY OF RESEARCHES IN GENETICS
 A. Garrod :- Father of human genetics and Biochemical genetics.

 Garrod discovered first human metabolic genetic disorder :-

Alkaptonuria(Black urine disease).

4
 SOME GENETICAL TERMS
 Character :- Any feature of an organism.
e.g. :- Stem height, Flower colour

 Trait :- Variable form of a character.

e.g. :- Tall/Dwarf.

Tall Dwarf
(Trait) (Trait)

Height
(Character)

5
 SOME GENETICAL TERMS
 Gene (term by Johannsen) :- Mendel used term “ Element ” or “ Factor ”.
Segment of DNA that is responsible for appearance of characters.
Segment of DNA that generally synthesizes RNA and protein.
Gene :- Unit of inheritance
Chemically gene is :- DNA
All genes are DNA but all DNAs are not gene.

6
 SOME GENETICAL TERMS
 Alleles :-
• Alternate forms of a gene is called allele.
• Allele arise due to mutation.
• Allele present at same locus on homologous chromosomes.
 SOME GENETICAL TERMS
 Unmodified allele/wild allele/original type :-
Allele which is present in nature from starting .
Generally unmodified allele is dominant allele.

 Modified allele:-
It is formed by mutation
Generally modified allele is recessive allele .
 SOME GENETICAL TERMS
Normal / less efficient
RNA enzyme
Unmodified Allele Modified Allele
S P
Case 1 Tall
Dominant Tall
Dominant
Mutation RNA Non functional enzyme
S PX
Case 2 Dwarf
Case 1 :-
Modified Allele = Unmodified Allele Recessive
Case 3 Dwarf
Case 2 and 3 :- S PX
Modified Allele Unmodified Allele RNA No enzyme at all
 SOME GENETICAL TERMS
Homozygous/ Pure/ True breeding :- Heterozygous/ Impure :-
Presence of two similar alleles of a Presence of two dissimilar alleles of a
gene in a diploid organism. gene in a diploid organism.
Ex- TT, tt Ex- Tt

T T T t
 SOME GENETICAL TERMS
Hemizygous :-
In diploid organisms, presence of single
E e E
allele of a gene. h
Ex- genes present on X and Y
chromosomes of human male. X X X Y
Hemizygous
 SOME GENETICAL TERMS
 Dominant Allele :-  Recessive Allele :-
 Allele that can express both in  Allele that can express only in
homozygous and heterozygous condition. homozygous condition.
e.g. :- T allele e.g. :- t allele

Dominant Allele
Homozygous TT Tall
Heterozygous Tt Tall

Homozygous tt Dwarf

Recessive Allele
SOME GENETICAL TERMS
 SOME GENETICAL TERMS
 Phenotype :-  Genotype :-
 The external appearance of an  The genetic constitution or genetic
organism for a particular character. make-up of an organism for a
Ex- Tall/ Dwarf particular character.
Ex- TT/ Tt/ tt
 SOME GENETICAL TERMS
 Phenocopy :-
 When two different genotype place under
different environmental conditions and develop
similar phenotype, they are called phenocopy of
each other. Different Genotype Different Environmental
TT tt
Gibberellin

Tall Dwarf
Tall
Different
Similar phenotype
Phenotype
 SOME GENETICAL TERMS
 Hybrid vigour/Heterosis :-
 Superiority of hybrid offspring over both of it's parent.
 This is due to heterozygosity.

Parent Parent
AAbb aaBB
Dominant Trait 1 1

AaBb (Hybrid vigour)

Dominant Trait :- 2
 SOME GENETICAL TERMS
 Inbreeding depression :-
 Lost of Hybrid vigour due to inbreeding or
self pollination is called Inbreeding depression

(Hybrid vigour) (Hybrid vigour)

AaBb AaBb
Dominant Trait 2 2
Inbreeding

aabb
Dominant Trait :- 0
 SOME GENETICAL TERMS
 Genome :-
 Total genetic material present in a
monoploid(haploid) cell of an organism.

Genome > Chromosome > Gene > Nucleotide > N Base

 GAMETE FORMATION
Meiosis
2n n (Gamete)

T (Gamete)
Tt Meiosis
t (Gamete)
 GAMETE FORMATION
Type of gamete = 2n
Here n :- no. of heterozygous pair e.g. :- AA e.g. :- Aa
n=0 n= 1
Method :- Fork line method
20 =1 21 = 2
Homozygous :- A
A
Heterozygous :- a
 GAMETE FORMATION
Type of gamete = 2n
Here n :- no. of heterozygous pair e.g. :- AABb
Method :- Fork line method n= 1
21 = 2
Homozygous :-

B = AB = 1/2
Heterozygous :- A
b = Ab = 1/2
 GAMETE FORMATION
Type of gamete= 2n
Here n :- no. of heterozygous pair e.g. :- AaBb
Method :- Fork line method n= 2
22 = 4
Homozygous :-
B = AB = 1/4
Heterozygous :- A
b = Ab = 1/4
B = aB = 1/4
a
b = ab = 1/4
 GAMETE FORMATION
Type of gamete= 2n
Here n :- no. of heterozygous pair e.g. :- aaBBDd
Method :- Fork line method n= 1
21 = 2
Homozygous :-

Heterozygous :- D = aBD = 1/2

a B
d = aBd = 1/2
 GAMETE FORMATION
Question :- A plant with genotype RRDdEe produce gametes.
Find out probability of gametes which contain RDE genotype?

Homozygous= 1/1
E = RDE = 1/4 RR = R
D Heterozygous = 1/2
e = RDe = 1/4 R
R Rr =
r
E = RdE = 1/4
d RRDdEe
R D E
e = Rde = 1/4 1 1 1 1
=
1X 2 X 2 4
 GAMETE FORMATION
Question :- A plant with genotype RrTtGgFF produce gametes.
Find out probability of gametes which contain following genotype :-
(1) RTgF
(2) rtgf
(3) rTGF

RrTtGgFF RrTtGgFF RrTtGgFF

(1) R T g F (2) r t g f (3) r T G F
1 X 1X 1 X 1 = 1 1 X 1X 1X 0 = 0 1 X 1X 1X 1 = 1
2 2 2 1 8 2 2 2 2 2 2 1 8
 GAMETE FORMATION
Question :- In human both male and female have
similar autosomal genotype AaBb and both
contain a X linked gene ‘d’ . Find out probability of
gametes produce in :-
(1) Female contain ‘abd’ genotype.
(2) Male contain ‘Abd’ genotype.
Genotype of female :- Genotype of male :-

AaBb + Xd Xd AaBb + Xd Y
(1) a b d (2) A b d
1 X 1X 1 = 1 1 X 1X 1 = 1
2 2 1 4 2 2 2 8
 GAMETE FORMATION
Question :- In human both male and female
have similar autosomal genotype rrTt and both
contain a X linked gene ‘h’ . Find out
percentage of gametes produce in :-
(1) Female contain ‘rTH’ genotype.
(2) Male contain ‘rth’ genotype.
Genotype of female :- Genotype of male :-
rrTt + Xh Xh rrTt + Xh Y
(1) r T H (2) r t h
1X1 X0 = 0 1 X 1 X 1 = 1 X 100 = 25%
1 2 1 2 2 4
 GAMETE FORMATION
Question :- which of the following is correct presentation
of gamete which is formed in diploid organism ?
(1) A b H e Rr
(2) AA Bb Hh Ee r
(3) A b H E r
(4) a bb HH e r

Ans . 3
 PUNNETT SQUARE/CHECKER BOARD
 It was developed by a British geneticist, Reginald C. Punnett
 It is a graphical representation to calculate the probability of all
possible genotypes of offspring in a genetic cross.
 Usually in Punnett square the male gametes lie horizontally and
female gametes lie vertically.

+ Tt
Tt X
Gametes 1
TT = 4
T t 2
T TT Tt Tt = 4
Gametes 1
t Tt tt tt = 4

29
 MENDELISM
 Gregor Johann Mendel (1822 - 1884) :-

Mendel was born on July 22,1822 at Silesian

village, Heinzendorf state in Austria.

 Mendel worked in Augustinian Monastery as

monk at Brunn city, Austria.

 Mendel performed hybridization

experiments on garden pea plant (Pisum
sativum) for 7 years (1856-1863).
 MENDELISM
Work started :- 1856
Work completed :- 1863
Work published :- 1865
journal- “Nature for schender varien”.
journal was published by:-
Natural History Society Of Brunn
Title of his paper was :-
“Experiments on plant hybridization”
Without recognition of his work,
he died in 1884 due to a kidney
disease(Bright’s disease).
 REDISCOVERY OF MENDEL’S WORK
 After 16 yrs of Mendel's death ,in 1900 his postulates were
rediscovered by 3 scientist [working independently].

1. Carl Correns (Germany) :– Experiments on Maize plant.

2. Hugo de Vries (Holland) :- Experiments on Evening Primerose plant.
3. Erich Von Tschermak (Austria) :- Experiments on different flowering plants.
 Hugo de Vries republished Mendel's results in journal “Flora” in 1901.
 Carl Correns converted two postulates of Mendel into -
two laws of heredity/Mendelism:-
a- Law of segregation
b- Law of independent assortment
 REASONS FOR UNRECOGNITION OF MENDEL'S WORK
 Mendel published his work on inheritance of characters
in 1865 but for several reasons, it remained
unrecognized till 1900:-
1. Communication was not easy so his work was not widely
publicized.
2. Mendel explained that factors are stable and discrete
units [did not blend] which was not accepted by his
contemporaries biologists.
3. Mendel's approach of using mathematics was totally
new at that time .
4. He could not provide any physical proof for the existence
of factors and what they are made of .
 REASONS FOR MENDEL'S SUCCESS
1. Mendel studied the inheritance of one
or two characters at a time unlike his
predecessors who had considered many
characters at a time.
 REASONS FOR MENDEL'S SUCCESS
2. Selection of garden Pea plant
(i) Pea plant is an annual plant with short life cycle
of 2-3 months.
(ii) Naturally, self pollination occurs in pea plant.
(iii) Cross pollination can be performed in it artificially
so hybridization can be made possible.
(iv) It has many contrasting traits.
(v) Pea plant is easy to cultivate.
(vi) Pea seeds are large.
 REASONS FOR MENDEL'S SUCCESS
3. Mendel quantitatively analysed the
inheritance of qualitative characters.
(His experiments had a large sampling size)
4. He maintained the statistical records of all
the experiments.
 MENDEL'S WORK
Mendel studied 7 characters or 14 contrasting traits in Garden Pea plant

S. Character Dominant Recessive

No. trait trait
1. Length of plant Tall Dwarf
(Stem height)
2. Flower position Axial Terminal
3. Flower colour Violet White
4. Pod shape Inflated Constricted
5. Pod colour Green Yellow
6. Seed colour Yellow Green
(cotyledon)
7. Seed shape Round Wrinkled
 MENDEL'S WORK
In pea plant chromosome no. is :- 2n = 14
Flower colour Length of plant Pod colour Seed shape
Pod shape

1 2 4 5 7
Seed colour 3 6
Flower position
If Mendel had studied pod shape and plant
height character simultaneously then :-
(1) He would not have been able to explain
independent assortment
(2) he might have
1 discovered
2 linkage 4 5 7
3 6
 MENDEL'S WORK
 Mendel obtained wrinkled seeds due to
absence of Starch Branching Enzyme (SBE).

SBE, present SBE, absent

Wrinkled seeds
Round seeds
 MENDEL’S EXPERIMENTAL TECHNIQUE
Steps :-1. Formation of true breeding/ pure (homozygous) line :-
 Mendel selected 14 true breeding varieties of garden pea plant.
 Mendel developed True breeding variety of garden pea plant by
continuous self pollination and selection .
 MENDEL’S EXPERIMENTAL TECHNIQUE
Step 2. Hybridisation between pure parents :-
a. Emasculation :- Removal of anther from bisexual flower before
maturity. It is done to prevent self pollination.
b. Bagging :- with paper bag so as to prevent undesirable cross
pollination.
c. Tagging :- emasculated and bagged flower are tagged by
writing date and time of every steps.

Tag
Bagging
 MENDEL’S EXPERIMENTAL TECHNIQUE
Parent Pure tall X Pure dwarf

Emasculation

Bagging
 MONOHYBRID CROSS
Monohybrid Cross :-
 A cross done to study inheritance of one
character or two contrasting traits at a time.

Tall
Height of Pea Plant Two
contrasting traits
one character Dwarf
 MONOHYBRID CROSS

Parents
+
Pure Tall Pure Dwarf
F1
Tall
X F1
Tall
X X
TT tt Tt Tt
Gametes
Gametes
T t T t
Fertilization T TT Tt
F1 Generation Tall Tall
Tt (All Tall) Gametes
Selfing t Tt tt
F2 Generation Tall Dwarf
F1 X F1
 MONOHYBRID CROSS
Pure Tall X Pure Dwarf
Conclusion of F2 Generation
TT tt
(1) Phenotype ratio :- Tall : Dwarf
3 : 1
F1 Tt Tall (2) Genotype ratio :- TT : Tt : tt
1 : 2: 1
Selfing
(3) Types of Phenotype = 2n = 21 = 2
(4) Types of Genotype = 3n = 31 =3
TT Tt
(5) No. of Zygotes/ offspring's = 4n = 41 = 4
Tall Tall (6) Pure Tall = 1/4
F2 (7) Impure Tall = 2/4
Tt tt (8) Pure plants = 2/4
Tall Dwarf
 MONOHYBRID CROSS
Pure Tall X Pure Dwarf Generation Homo- Hetero-
TT tt zygosity zygosity
(Pure) (Impure)
Parental Generation 100% 0%
F1 Tt Tall
F1(by cross pollination) 0% 100%
Selfing
F2 (by self pollination) 50% 50%
TT Tt F3 (by self pollination) 75% 25%
Tall Tall 87.5% 12.5%
F4 (by self pollination)
F2
Tt tt Self pollination increases homozygosity
Tall Dwarf
Cross pollination increases heterozygosity
 CONCLUSIONS OF MONOHYBRID CROSS
Conclusions (results) of Monohybrid Cross :-
 On the basis of results of monohybrid cross, Mendel
proposed 3 postulates which have been converted into
2 laws of heredity –

Postulate-I :- Postulate of paired factors

Law of Dominance
Postulate-II :- Postulate of dominance
Postulate-III :- Postulate of segregation Law of Segregation
 CONCLUSIONS OF MONOHYBRID CROSS
Postulate-I :- Postulate of paired factors -
•According to Mendel each character is controlled by unit factor .
• Factor occur in the form of pairs .
•Eg tall – TT , Tt .
 CONCLUSIONS OF MONOHYBRID CROSS
Postulate-II :- Postulate of dominance -
In case of dissimilar unit factors(heterozygous), one
unit factor is able to express itself, it is called
Dominant unit factor whereas other unit factor fail
to express itself it is called recessive unit factor.
Pure Tall X Pure Dwarf
TT tt

Heterozygous Tt Tall

Dominant Recessive
factor factor
 CONCLUSIONS OF MONOHYBRID CROSS

Exceptions of law of dominance :-

1- Incomplete dominance 2- Co-dominance
 CONCLUSIONS OF MONOHYBRID CROSS
Postulate-III :- Law of segregation/ law of purity of gametes
When two dissimilar factors present in an organism then :-
1. Factors never show any blending.
2. During gamete formation both factors separate
randomly by this one gamete recessive only one factor of
the two factors, so gametes are always pure.
 CONCLUSIONS OF MONOHYBRID CROSS
Under normal condition this law is universally applicable.
Rare exception :- non-disjunction
T

Normal
T Gametes

t
t
T
Mother Cell
t
Abnormal
Gametes
 CONCLUSIONS OF MONOHYBRID CROSS
In F2 Generation 3:1 ratio is obtained due to :-
(1) Dominance
(2) Segregation
In F2 Generation dwarf plant is obtained due to :-
Segregation
 QUESTION OF MONOHYBRID CROSS

Question :- which one of the following can not be

explained on the basis of Mendel’s Law of Dominance ?
(1) Factors never show any blending.
(2) Factor occur in the form of pairs
(3) character is controlled by unit factor
(4) Out of one pair of factor one is Dominant factor
whereas other is recessive factor.

Ans . 1
 QUESTION OF MONOHYBRID CROSS
Question :- an impure tall pea plant is crossed Solution
with Dwarf plant. This cross produce 200 Impure tall X Dwarf
offspring's. How many of them have pure tall
Tt tt
and dwarf plant respectively?
(1) 0, 200
(2) 100, 100
(3) 150, 50 t
(4) 0, 100 T Tt Impure tall
t tt Dwarf

Pure tall = 0
Dwarf = 1 x 200 =100
2
Ans . 4
 QUESTION OF MONOHYBRID CROSS
Question :- what will be genotype of parental garden pea plant if they
produce 44 tall and 15 dwarf offspring's ?
(1) TT X TT (2) Tt X Tt (3) TT x tt (4) Tt X tt

T t t
T T TT Tt t T Tt Tall
T TT T Tt t tt Dwarf
t Tt tt
All Tall
Tall : Dwarf All Tall
3:1
Tall Dwarf
44 15 Ans .2
3:1
 QUESTION OF MONOHYBRID CROSS
Question :- In garden pea plant , a pure Solution
violet flower plant is crossed with white Pure violet X White
WW ww
flower plant. In F2 generation 1000
offspring's are obtained. How many of w
them have :-
W Ww F1
(1) Pure flowered plant = 2/4 X 1000 = 500
Ww X Ww
(2) Impure violet flower = 2/4 X 1000 = 500
W w
(3) White flower = 1/4 X 1000 = 250
W WW Ww
F2
w Ww ww
 QUESTION OF MONOHYBRID CROSS
Question :-In human being brown eye Solution
colour is dominant over blue eye colour. Brown eye (B) Blue eye (b)
What will be the genotype of brown
BB bb
eyed parents, if they have blue eyed
Bb
child?
(1) BB X bb
(2) Bb X bb +
Brown eyed Brown eyed
(3) Bb X Bb
X , Bb
BB X , Bb
BB
(4) bb X bb

Ans .3
Blue eyed
bb
 QUESTION OF MONOHYBRID CROSS
Question :-In human being brown eye colour is dominant
over blue eye colour.A brown eyed male has blue eyed
mother. This male is marry with blue eyed female. Find out
probability of their child have brown eyed?
Mother blue eyed
Solution bb
Brown eye (B) Blue eye (b)
+
Brown eyed Blue eyed
BB bb
X , Bb
BB bb
Bb
b
Brown eyed child 1/2
:- Bb
B Brown eyed
b bb Blue eyed
 QUESTION OF MONOHYBRID CROSS
Question :-in human being albinism is an autosomal
recessive disease . The first child of normal parents is
albinic . What will be the probability of their second
child to be albinic?
Albinism :-Autosomal recessive disease +Aa Aa
A a
A a
Dominant Recessive +
(Disease) Normal Normal A AA Aa
Genotype X , Aa
AA X , Aa
AA
AA :- Normal a Aa aa
Aa :- Normal but carrier
aa :- Albinic (affected) Albinic
Albinic child :- 1/4
aa
 QUESTION OF MONOHYBRID CROSS
Question :-In human being albinism is an autosomal
recessive disease. A normal male has affected father.
This male is marry with a female whose father is also
affected but mother is homozygous normal. What will Mother
Father
be the probability of their child to be carrier? homozygous
affected
Father affected normal
Albinism :- aa aa AA
Autosomal recessive disease
AA :- Normal Normal
+
Aa :- Normal but carrier X , Aa
AA Aa

aa :- Albinic (affected)
AA Aa
Carrier child :- 2/4
Aa aa
 QUESTION OF MONOHYBRID CROSS
Question :-in human being myotonic dystrophy is
an autosomal dominant disease. A normal male is Father
marry with a affected female whose father is also normal
normal. What will be the probability of their child to aa
be homozygous normal?

Myotonic dystrophy :- Normal male +

affected
Autosomal dominant disease aa X , Aa
AA
A a
Dominant Recessive
(Disease) A a
a Aa aa
AA :- Affected
Aa :- Affected
Child to be homozygous normal :- 1/2
aa :- Normal
 SOME IMPORTANT FORMULA FOR SELFING

Formula Aa
Monohybrid Dihybrid Trihybrid
Aa X Aa AaBb X AaBb AaBbCc X AaBbCc
Types of phenotypes
= 21 = 2 = 22 = 4 = 23 = 8
2n
Types of genotype
= 31 = 3 = 32 = 9 = 33 = 27
3n
Zygote combination = 42 = 16 = 43 = 64
= 41 = 4
4n

Where n :- no. of heterozygous pair

 DIHYBRID CROSS
 A cross done to study inheritance of two characters or
four contrasting traits at a time.
 Mendel performed dihybrid cross to knew the any
interaction among the characters during the inheritance.
 Mendel never performed all possible 21 dihybrid
crosses of 7 characters.
Two characters of garden pea
Round (R) - Dominant
1- Seed shape
Wrinkled (r) - Recessive

Yellow (Y) - Dominant

2- Seed colour
Green (y) - Recessive
 DIHYBRID CROSS
Parents X
Round yellow Wrinkled green
RR YY rr yy
Gametes

RY ry

F1 generation Rr Yy Round yellow

Selfing of F1

F2 generation Rr Yy X Rr Yy
 DIHYBRID CROSS
Rr Yy X Rr Yy

RY Ry rY ry
RRYY RRYy RrYY RrYy
RY

RRYy RRyy RrYy Rryy F2 generation

Ry

rY RrYY RrYy rrYY rrYy

RrYy Rryy rrYy rryy

ry
 DIHYBRID CROSS

F2 generation Phenotypic ratio

(Parental) Round yellow :- 9
RRYY RRYy RrYY RrYy
(New) Round green :- 3
RRYy RRyy RrYy Rryy

(New) Wrinkled yellow:- 3

RrYY RrYy rrYY rrYy
(Parental) Wrinkled green:- 1
RrYy Rryy rrYy rryy
 DIHYBRID CROSS
Genotypic ratio
F2 generation RRYY :- 1
RY Ry rY ry RrYY :- 2
RRYy :- 2
RY RrYy :- 4
RRYY RRYy RrYY RrYy RR yy :- 1
Rr yy :- 2
Ry RRYy RRyy RrYy Rryy rr YY :- 1
rr Yy :- 2
rY RrYY RrYy rrYY rrYy rr yy :- 1

ry RrYy Rryy rrYy rryy

 DIHYBRID CROSS
F2 generation
(1) Phenotype ratio :- 9 : 3 : 3 : 1

RRYY RRYy RrYY RrYy (2) Genotype ratio :- 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1

RRYy RRyy RrYy Rryy (3) Types of Phenotype = 2n = 22 = 4

(4) Types of Genotype = 3n = 32 = 9

RrYY RrYy rrYY rrYy
(5) No. of Zygotes = 4n = 42 = 16
RrYy Rryy rrYy rryy
 CONCLUSION OF DIHYBRID CROSS
Postulate-IV :- Law of Independent Assortment

 It is based on F2 generation of dihybrid cross.

 When two or more characters inheritate
simultaneously than inheritance of one character
independent from other characters, and one
character inheritate just like in monohybrid pattern.
 LAW OF INDEPENDENT ASSORTMENT
Postulate-IV :- Law of Independent Assortment
Dihybrid

Monohybrid Monohybrid
Character 1 Character 2
Seed shape Seed colour
Round (R) Wrinkled (r) Yellow (Y) Green (y)
 Round, yellow : Round green : Wrinkle, yellow : Wrinkled, green
9 : 3 : 3 : 1
 LAW OF INDEPENDENT ASSORTMENT
This law is not universal. Exception linkage

Law of independent assortment is applicable

when genes for two characters are located on
different chromosomes.
But if genes are located on same chromosome,
are linked and inherited together, so exception to
this law is linkage.
 QUESTION OF DIHYBRID CROSS
Parents
Question :- In F2 generation of dihybrid Round yellow Wrinkled green
cross, what is the probability of offspring's RR YY rr yy

which are :- F1 RrYy Round yellow

A- Homozygous for both characters :- 4/16 RR YY :-1
F2 Rr YY :-2
B- Heterozygous for both characters:- 4/16 RR Yy :-2
Round yellow :- 9
Round green :- 3
Rr Yy :-4
C- Homozygous for one character and
Wrinkled yellow:-3 RR yy :-1
heterozygous for another character:- 8/16 Wrinkled green:- 1 Rr yy :-2
rr YY :-1
rr Yy :-2
rr yy :-1
 QUESTION OF DIHYBRID CROSS
Parents
Round yellow Wrinkled green
D – have phenotype similar to parents :- 10/16 RR YY rr yy
E - have genotype similar to parents:- 2/16
F1 RrYy Round yellow
F – have new genotypic combination:- 14/16
RR YY :-1
G – have new phenotypic combination:- 6/16 F2 Rr YY :-2
H - have phenotype similar to F1:- 9/16 Round yellow :- 9 RR Yy :-2
Round green :- 3
Rr Yy :-4
I - have genotype similar to F1:- 4/16
Wrinkled yellow:-3 RR yy :-1
Wrinkled green:- 1 Rr yy :-2
rr YY :-1
rr Yy :-2
rr yy :-1
 QUESTION OF DIHYBRID CROSS
Question :- A plant with genotype DdEe is crossed
with other plant having genotype Ddee .Find out
probability of offspring's which have following
DdEe X Ddee
genotype :-
(1) Ddee (2) DDEe (3) DDEE
 QUESTION OF DIHYBRID CROSS
Question :- A plant with genotype RRHhGg is crossed
with other plant having genotype rrhhGg and produce
800 pffsprings .Find out number of offspring's which
have following genotype :-
(1) RrhhGG (2) RRHhGg (3) RrHhGg

RRHhGg X rrhhGg
(1) RrhhGG
1/1 X 1/2 X 1/4 = 1/8 X 800 =100
RR X rr Hh X hh Gg X Gg
(2) RRHhGg
0 X 1/2 X 2/4 = 0 h G g
H G GG Gg
Rr Hh
(3) RrHhGg h g Gg gg
hh
1/1 X 1/2 X 2/4 = 2/8 X 800 =200
 QUESTION OF DIHYBRID CROSS
Question :- In a cross between AaBb and aaBb
genotypic plant . The ratio of AaBB, AABb, aaBb, aabb
in offspring's is :-
(1) 9:3:3:1 (2) 1:1:1:1
(3) 1:0:2:1 (4) 1:1:2:2
AaBb X aaBb
AaBB : AABb : aaBb : aabb
1/2 X 1/4 : 0 X 2/4 : 1/2 X 2/4 : 1/2 X 1/4
Aa X aa Bb X Bb
1/8 : 0 : 2/8 : 1/8
B b
a
B BB Bb
Ratio :- 1 : 0 : 2 : 1 A Aa
b Bb bb
a aa
Ans. 3
 QUESTION OF DIHYBRID CROSS
Question :- In garden pea palnt tallness is TtRr X Ttrr
dominant over dwarfness and round seed
shape(R) is dominant over wrinkled(r).
A cross between TtRr and Ttrr genotypic Tt X Tt Rr X rr
plant .Find out probability of offspring's T t r
which have :- TT Tt R Rr
T Tall Round
(1) Tallness with round seed shape Tall
3/4 X 1/2 = 3/8 Tt rr
tt r Wrinkled
t Tall Dwarf

(2) Dwarfness with wrinkled seed shape

1/4 X 1/2 = 1/8
 QUESTION OF DIHYBRID CROSS
Question :- continue….
TtRr X Ttrr
(3) Phenotypic ratio :-
Tall : Dwarf Round : Wrinkled
Tt X Tt Rr X rr
3 : 1 X 1 : 1
T t r
TT Tt Rr
3 : 3 : 1 : 1 T Tall
R
Round
Tall
(4) Types of Phenotype Tt rr
tt r Wrinkled
Ans. 4 t Tall Dwarf
 QUESTION OF DIHYBRID CROSS
Question :- continue….
TtRr X Ttrr
(5) Genotypic ratio :-
TT : Tt : tt Rr : rr Tt X Tt Rr X rr
1 :2 : 1 X 1 : 1
T t r
TT Tt Rr
1 : 1 : 2: 2 : 1 : 1 T Tall
R
Round
Tall
(6) Types of Genotype :- Tt rr
tt r Wrinkled
Ans. 6 t Tall Dwarf

(7) Zygotic combination :-

4 X 2

Ans. 8
 QUESTION OF DIHYBRID CROSS
Question :- In given The Punnett YR Yr yR yr

square A plant of type ‘H’ will produce YR F J N R

seeds with the genotype identical to Yr G K O S
seeds produced by the plants of :- yR H L P T
(1) Type M yr I M Q U
(2) Type J
Sol. Genotype of H is YyRR
(3) Type P
(4) Type N
Therefore, it is identical to the genotype of N

Ans = (4)
 TRIHYBRID CROSS
A cross done to study inheritance of three characters
or three pairs of contrasting traits at a time.
Parents RR TT YY X rr tt yy

F1 generation Rr Tt Yy
Selfing of F1

Rr Tt Yy X Rr Tt Yy
F2 generation

(1) Phenotypic ratio :- (3 : 1 ) X (3 : 1 ) X (3 : 1 )

(2) Genotypic ratio :- (1 : 2 :1) X (1 : 2 : 1 ) X (1 : 2 : 1 )

SPECIAL CROSS ( BACK CROSS)
(1) Back cross :-
 F1 hybrid is crossed with any one of the
homozygous parent (either dominant or recessive
parents)

Parents Pure Tall X Pure Dwarf

TT tt
Back Cross Back Cross
(Out Cross) (Test Cross)
Tt
Tall
F1 Generation
SPECIAL CROSS ( OUT CROSS)
(1) BACK CROSS :- It is of two types :-
A :- OUT CROSS :-
 In this cross F1 individual cross with dominant parent.
 In this cross in next generation only dominant character are
appeared so any type of analysis is not possible .
F1 hybrid Homozygous dominant parent
Tt TT

T
TT
T Tall Phenotypic ratio :- 1
Tt Genotypic ratio :- 1 : 1
t
Tall
SPECIAL CROSS ( TEST CROSS)
B :- TEST CROSS :-
 In this cross F1 individual cross with recessive parent.
 This cross very significant
a) Monohybrid Test Cross :-
F1 hybrid Recessive parent
Tt tt

t
Tt Phenotypic ratio(PR) :- 1 : 1
T Tall
Genotypic ratio(GR) :- 1 : 1
tt
t PR = GR
Dwarf
 SPECIAL CROSS ( TEST CROSS)
b) Dihybrid Test Cross :-
F1 hybrid Recessive parent
RrYy rryy

ry
RY RrYy Phenotypic ratio(PR) :- 1 : 1 : 1 : 1
Round yellow
Ry Rryy Genotypic ratio(GR) :- 1 : 1 : 1 : 1
Round green PR = GR
rY rrYy
Wrinkled yellow
rryy
ry
Wrinkled green
SPECIAL CROSS ( TEST CROSS)
c) Trihybrid Test Cross :- 3 Monohybrid Test Cross
(1 : 1 ) X (1 : 1 ) X (1 : 1 )

(1 : 1 : 1 : 1 ) X (1 : 1 )

Phenotypic ratio(PR) :- 1 : 1 : 1 : 1 : 1 : 1 : 1 : 1

Genotypic ratio(GR) :- 1 : 1 : 1 : 1 : 1 : 1 : 1 : 1

PR = GR
 SPECIAL CROSS ( TEST CROSS)
Uses of test cross
1. To know the genotype of unknown dominant individual .
2. To know the types of gametes formed in unknown
dominant individual.
Unknown Tall(dominant) Unknown Tall X Dwarf Unknown Tall X Dwarf
TT Tt TT tt Tt tt
Tt Tt
Tall Tall
Unknown Dwarf(recessive)
tt tt
Dwarf
 SPECIAL CROSS ( TEST CROSS)
Uses of test cross
e.g. :- Flower colour in garden pea plant
Violet (dominant) , white (recessive)

Unknown violet X white Unknown violet X white

Result :- All flowers are violet
Interpretation :-
Unknown flower is homozygous
Result :- Half of the flowers are violet and
Half of the flowers are white.
Interpretation :-
Unknown flower is heterozygous
SPECIAL CROSS ( RECIPROCAL CROSS)
(2) Reciprocal Cross :-
 It is a set of two crosses in which in second cross
sex of the parents are reversed.
 Mendel conducted reciprocal cross to knew the inheritance
of characters is dependent on parental sex or not.
Cross 1 Cross 2
+
Pure Tall Dwarf
+
Dwarf Pure Tall
TT tt tt TT

Tt (All Tall) Tt (All Tall)

Result :- Mendel obtained similar result in both cross
Conclusion :- Inheritance of characters is not
dependent on parental sex
 SPECIAL CROSS ( RECIPROCAL CROSS)
 Characters studied by Mendel were controlled by karyogene
and this genes are located on autosome.
 Results of reciprocal cross will change In two cases
(1) Genes present in cytoplasm (cytoplasmic inheritance)
(2) Genes present on sex chromosomes ( sex linkage)
 P0ST MENDELISM
 After rediscovery of Mendel's work
 1900 Onwards
GENE INTERACTION :-
 Genes interact to modify the phenotype.
 GENE INTERACTION

One gene/ Intragenic/ Two gene/Intergenic/

Allelic interaction Non allelic interaction
A a A a
B b

Interaction between Interaction between alleles of the

alleles of the same gene 2 different genes or non alleles
 GENE INTERACTION
Gene Interaction

One gene/ Intragenic/ Two gene/Intergenic/

Allelic interaction Non allelic interaction

Examples :- Examples :-
1- Incomplete dominance 1- Complementary gene
2- Co- dominance 2- Epistatic gene
3- Multiple alleles
4- Pleiotropic gene
 QUALITATIVE AND QUANTITATIVE CHARACTER
Qualitative Character Quantitative Character
This character is not dependent on This character is dependent on
number of dominant alleles number of dominant alleles

Genotype Dominant Height Genotype Dominant Height

alleles alleles
TT 2 10 cm TT 2 10 cm

Tt 1 10 cm Tt 1 7.5 cm

0 5 cm 0 5 cm
tt tt
 INCOMPLETE DOMINANCE
(1) INCOMPLETE DOMINANCE (PHENOTYPIC BLENDING) :-
 Also called monogenic quantitative inheritance
 Exception of Mendel's law of dominance .
 In this interaction dominant allele is not fully dominant over
recessive allele
 so in heterozygous condition an intermediate phenotype appears.
 Thus, F1 hybrid does not resemble to any of the parent.
 In this inheritance Phenotypic and genotypic ratios are obtained
same
 It was discovered by Carl Correns in flower colour of
Mirabilis jalapa / 4 O’ clock plant /Gul-e-Bans.
 INCOMPLETE DOMINANCE
e.g. (a) flower colour in Mirabilis jalapa / 4 O’ clock plant /Gul-e-Bans.
Parents X
Red White
RR rr

F1 Generation Rr
(All Pink)
Selfing

F1 X F1
 INCOMPLETE DOMINANCE
e.g. (a) flower colour in Mirabilis jalapa / 4 O’ clock plant /Gul-e-Bans.
F1 X F1
Pink X Pink
Rr Rr
R r
R RR Rr
Gametes Red Pink
r Rr rr
F2 Generation Pink White

(1) Phenotype ratio :- Red : Pink : White

1 : 2 : 1
PR = GR
(2) Genotype ratio :- RR : Rr : rr
1 : 2 : 1
 INCOMPLETE DOMINANCE
e.g. (b) flower colour in Antirrhinum majus/ Snapdragon /Dog Flower.

Parents Red White

RR rr

F1 Generation Rr
(All Pink)
 INCOMPLETE DOMINANCE
e.g. (c) Feather colour in Andalusian fowl.
Parents
Black X White
BB bb

Bb
F1 Generation (All Blue)
 INCOMPLETE DOMINANCE
e.g. (d) Size of starch grain in seeds of garden pea plant.
Parents
Large sized X Small sized
Starch grain Starch grain
BB bb

Bb
F1 Generation Medium sized
Starch grain
 INCOMPLETE DOMINANCE
Question :- With respect to size of starch grain Large X Medium
BB Bb
in pea plant large sized starch garin plant is
crossed with medium sized starch grain and
produce 100 offspring’s. Find out number of
large, medium and small sized respectively?
Large = 1 X 100 = 50
2
Medium = 1 X 100 = 50
2
Small = 0
 INCOMPLETE DOMINANCE
Question :- In Mirabilis red (RR) and white (rr) Red X White
flower produces F1 generation. Now F1 RR rr
generation is test crossed and produce 200
offspring's , how many of them are red , pink
, and white flowered respectively :- Rr
(Pink)

F1 X Test crossed
Red = 0 Rr rr
r
Pink = 1 X 200 = 100 R Rr
2 Pink
White = 1 X 200 = 100 r
rr
2 White
 CO - DOMINANCE
(2) CO - DOMINANCE :-
 Exception of Mendel's law of dominance .
 In this interaction in heterozygous condition both alleles are
equally dominant and show their independent expression.
 So in heterozygous condition an intermediate phenotypes
are not appears.
 Thus, F1 hybrid resemble to both of the parent.
 In this inheritance Phenotypic and genotypic ratios are
obtained same
 CO - DOMINANCE
e.g. (a) Coat colour in cattle's :-
+
Black X White

B1B1 B2B2

F1 Generation B1B2
Roan
Sib mating

F1 X F1
 CO - DOMINANCE
e.g. (a) Coat colour in cattle's :-
F1 X F1
Roan X Roan
B1B2 B1B2
B1 B2
B1 B1B1 B1B2
Gametes Black Roan
B2 B1B2 F2 Generation
B2B2
Roan White
(1) Phenotype ratio :- Black : Roan: White
1 : 2 : 1
P.R. = G.R.
(2) Genotype ratio :- B1B1 : B1B2 : B2B2
1 : 2 : 1
 CO - DOMINANCE
e.g. (b) AB blood group in human :- IAIB

e.g. (c) Carrier(Trait) of sickle cell anaemia- HbAHbS

 CO - DOMINANCE
Question :- In a dihybrid cross, Solution :-
when one pair of alleles show Phenotypic ratio of gene showing :-
incomplete dominance and other 1) Incomplete dominance (1 : 2 : 1)
pair show complete dominance, 2) Complete dominance (3 : 1)
the phenotypic ratio comes in F2
generation is:- So, phenotypic ratio considering both the
genes together will be
(1) 3 : 1 : 6 : 2 : 3 : 1
(1 : 2 : 1) X (3 : 1)
(2) 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1 3 : 1: 6: 2: 3: 1
(3) 9 : 3 : 3 : 1 Ans = (1)
(4) 1 : 2 : 1
 CO - DOMINANCE
Question :- F2 generation in a Mendelian cross
showed that both genotypic and phenotypic ratios
are same as 1 : 2 : 1. It represents a case of :-
(1) Monohybrid cross with complete dominance
(2) Monohybrid cross with incomplete dominance
(3) Co-dominance
(4) Dihybrid cross

Ans= (2)
 MULTIPLE ALLELES
Presence of more than two alleles of a gene.
T
One gene t
T’
2 alleles 3 alleles
genotype genotype
TT TT
Tt Tt
tt tt
T T’
T’T’
T’t
 MULTIPLE ALLELES
 Presence of more than two alleles of a gene.
 Multiple alleles arise due to mutation.
 Multiple alleles are located at same locus on homologous chromosome.
 For the study of multiple alleles population study is essential.
 In a diploid individual study of multiple alleles is not possible because
a diploid individual have only maximum two allele of a gene.
 In case of multiple alleles number of alleles in :-
Diploid individual :- 2
Gamete :- 1
Population :- All possible
 MULTIPLE ALLELES
n (n+1)
Types of genotype = n= number of alleles
2
Ex- ABO blood group in human :- 3 alleles
 ABO Blood group is discovered by Land Steiner
 Blood group is controlled by I gene, and this gene located on chromosome no. 9
 I gene regulate attachment of sugar molecule on the surface of RBC.
 This gene has three alleles :- IA , IB , IO
I gene

IA IB IO
Dominant Dominant Recessive
 MULTIPLE ALLELES

N-acetyl IA Allele IB Allele

galactosamine
Galactose
IA IB
enzyme A enzyme B

RBC
Glyco Lipid Glyco Lipid RBC

Glyco Lipid Glyco Lipid

Antigen ‘A ’ Antigen ‘B ’
Blood group:- ‘A ’ Blood group:- ‘B ’
 MULTIPLE ALLELES
IO Allele

IO

Enzyme
absent

Glyco Lipid RBC

Glyco Lipid
Antigen ‘absent’
Blood group:- ‘O’
 MULTIPLE ALLELES
N-acetyl
galactosamine Galactose
IA IB

Glyco Lipid RBC Lipid Glyco

Glyco Lipid
Glyco Lipid
Antigen ‘A ’ Antigen ‘B ’

Blood group:- ‘AB ’

 MULTIPLE ALLELES
Blood
Group Genotype Antigen Antibody

A IAIA, IAIO A b

B IBIB, IBIO B a

AB IAIB A&B Neither a

nor b
IOIO Neither A a&b
O nor B
 MULTIPLE ALLELES
Question :- Father is
heterozyzygous for A blood group Heterozyzygous ‘A’
+
AB
and blood group of mother is AB. IA Io IA IB
How many types of genotype and IA IB
phenotypes are possible in this
cross ? IA IA IA IA IB
Gametes ‘A’ ‘AB’
Io IA Io IB Io
‘A’ ‘B’

Phenotype :- 3

Genotype :- 4
 MULTIPLE ALLELES
Question :-A child’s blood group is
'O'. His parents blood group cannot
be :-
+
_ Io _ Io
(1) B&O
(2) A&O
(3) AB
(4) A&B Child ‘ O ‘
Io Io
 MULTIPLE ALLELES
Question :- what will be the
phenotype and genotype of
parental blood group of a family in
+
which all four types of blood group I A Io I B Io
are present in their children ?

Child
Phenotype :- A , B ‘ A ‘ ‘ B ‘ ‘ AB ‘ ‘O‘
Genotype :-
IA IB Io Io
IA Io ,IB Io
 MULTIPLE ALLELES
Question :- A man of ‘A’ blood group marries a
woman of ‘AB’ blood group, which type of
blood group in the child would indicate that
the man is heterozygous for A?
‘A’
+
AB
IA IA , I A I o IA IB
Case 1
+A B AB Case 2
IA Io
+IA IAB
B
IA IA I I
IA IB
IA IB IA IA IA IB
IA
IA IA IA IB ‘A’
IA ‘AB’
‘A’ ‘AB’
IA Io IB Io
Io ‘A’ ‘B’
‘Homozygous’ :- A , AB
‘Heterozygous’ :- A , AB , B
 PLEIOTROPIC GENE
(4)Pleiotropic Gene :-
A gene which controls more than one character.
Pleiotropic gene produce multiple phenotypic effects

Character 1

1 Gene Character 2

Character 3
Pleiotropic Gene
 PLEIOTROPIC GENE
e.g. (a) In pea plant:-
Flower colour

1 Gene Seed coat colour

Red spot on leaf axil

Pleiotropic Gene
 PLEIOTROPIC GENE
e.g. (b) In pea plant:-
BB :- Round
Seed shape Bb :- Round
bb :- Wrinkled

B Gene

BB :- Large
Size of Bb :- Medium
starch grains
bb :- Small
 PLEIOTROPIC GENE
Dominance is not an autonomous (self) feature of a gene ,
It dependent on :-
(1) Product of gene
(2) Particular phenotype that we choose to examine(study),
in case of pleiotropic gene.
Seed shape

B Gene

Size of
starch grains
 PLEIOTROPIC GENE
Question :- A pure round seed shape pea plant Pure Round X Wrinkled
is cross with wrinkled seed shape plant and BB bb
produce F1 generation. In F1 generation :-
(1) Wrinkled seeds are obtained
(2) Large sized starch grains are obtained Bb
(3) Medium sized starch grains are obtained
(4) Small sized starch grains are obtained
Round Medium

BB :- Round BB :- Large
Bb :- Round Bb :- Medium
bb :- Wrinkled bb :- Small
 PLEIOTROPIC GENE
e.g. (c) Most of genetic disease :-
I. Phenylketonuria
II. Sickle cell anaemia :-
 Autosomal recessive disorder.
 In this disease 6th amino acid of beta chain of
haemoglobin is changed (Glutamic acid to Valine) due to
Point (Gene) mutation/Substitution/Transversion.
 Gene of beta chain is located on chromosome number 11.
HbA Point mutation HbS
Wild Mutant
allele allele
Normal Hb. Abnormal Hb.
[Mutant Hb.]
 PLEIOTROPIC GENE
Normal HbA gene Sickle-cell HbS gene
Substitution
5' ---GAG--- 3' 5' ---GTG--- 3'
3' ---CTC--- 5' 3' ---CAC--- 5'

mRNA 5' ---GAG--- 3' mRNA 5' ---GUG--- 3'

Abnormal beta chain

Normal beta chain
Abnormal heamoglobin
Normal heamoglobin
Under low O2 tension
Normal shape of RBC
Heamoglobin polymerisation
Biconcave
Shape of RBC change i.e. sickle shape
 PLEIOTROPIC GENE
Sickle shape RBC

Hard and rigid RBC Slow blood circulation Organ disfunctioning

Anaemeia
Short life span
of RBC 80-100 days RBC death increase
Jaundice

Resistance to malaria
 PLEIOTROPIC GENE
Genotype

HbA HbA :- Normal

HbA HbS :- Normal but carrier/trait of sickle cell anaemia

HbS HbS :- sickle cell anaemia(Death during childhood)

 NON – ALLELIC INTERACTION
1. Complementary gene :-
 In this interaction two non allelic gene regulate one character.
 For the development of dominant trait the dominant alleles of
both genes must be present together.
 Absence of both dominant alleles of any genes will result in
recessive expression.
e.g. :- Flower colour of lathyrous odoratus (sweet pea)
Flower colour is controlled by two genes ‘C’ and ‘P’
C_P_ :- Purple coloured.
C_ pp :- Colourless (white)
cc P_ :- Colourless (white)
cc pp :- Colourless (white)
 COMPLEMENTARY GENE
Biochemical basis of colour production :-

Gene C Gene P

RNA RNA

Enzyme Enzyme
Substrate Chromagen Anthocyanin
(purple
colour)
 COMPLEMENTARY GENE
Parent Purple White
CCPP ccpp
CP Cp cP cp
CP CCPP CCPp CcPP CcPp F1 CcPp Purple
CCp Selfing
Cp CCPp CcPp Ccpp
p CcPp X CcPp
F2
cP CcPP CcPp ccPP ccPp
C_P_ C_ pp cc P_ cc pp
cp CcPp Ccpp ccPp ccpp (9) (3) (3) (1)
Purple White White White
P.R. :- 9 : 7
G.R. :- 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
 COMPLEMENTARY GENE
Question :- with respect to flower colour of CcPp X Ccpp
Lathyrous odoratous genotype of a plant is
CcPp. This plant is crossed with Ccpp genotypic Cc X Cc Pp X pp
plant. Find out probability of purple and white p
flower respectively in offspring’s ? CC Cc P Pp
CcPp X Ccpp
Cp cp Cc cc p pp

CP CCPp CcPp Purple colour :- C_ P_

Cp CCpp Ccpp =3 X 1 =3
4 2 8
CcPp ccPp White colour :- 1 - Coloured
cP
=1 - 3 =5
cp Ccpp ccpp 8 8
 EPISTASIS
(2) Epistasis :-
 In this interaction one non – allelic gene
suppresses or prevents the phenotypic
expression of the other non – allelic gene.
(a) Epistatic gene :-
Gene which inhibit the expression of another gene
(b) Hypostatic gene :-
Gene whose expression is suppressed
Epistasis is of 2 types:-
a) Dominant epistasis
b) Recessive epistasis
 EPISTASIS
(a) Dominant epistasis :-
In this interaction dominant allele of epistatic gene Suppresses
the expression of other non – allelic gene.
e.g. :- Fruit colour in summer squash (Cucurbita pepo)

W
Yellow(Y) Green(y)
Epistatic gene
w
W_Y_ :- Yellow :-White
Dominant ww Y_ :- Yellow
epistasis
W_ yy :- Green :-White
ww yy :- Green
 EPISTASIS
(a) Dominant epistasis :- Parent White Green
WWYY wwyy

F1 WwYy White
Selfing

F2 WwYy X WwYy

W_Y_ W_ yy wwY_ wwyy

(9) (3) (3) (1)
White White Yellow Green
P.R. :- 12 : 3 : 1
G.R. :- 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
 EPISTASIS
(b) Recessive epistasis :-
In this interaction recessive allele of epistatic gene
Suppresses the expression of other non – allelic gene.
e.g. :- Coat colour in mice
Gene C Gene A
Albino Black Agouti

C_ A_ :- Agouti (9)
cc A_ :- Agouti :-Albino (3) P.R. :- 9 : 3 : 4
Recessive C_ aa :- Black (3) G.R. :- 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
epistasis
cc aa :- Black :- Albino (1)
 POLYGENIC / QUANTITATIVE INHERITANCE
 In this inheritance one quantitative character is controlled by
more than one gene.
 The phenotype is dependent on number of dominant allele.
 Each dominant allele contribute in development of phenotype.
 Maximum expression is obtained when all dominant alleles of
all genes must be present together.
 Minimum expression is obtained when all recessive alleles of
all genes must be present .
 In this inheritance phenotype is highly influenced by
environment.
 POLYGENIC / QUANTITATIVE INHERITANCE
Type of Phenotype :- 2n + 1
 Type of Genotype :- 3n
 Zygotic combination :- 4n
 POLYGENIC / QUANTITATIVE INHERITANCE
Examples:-
(a)- Kernel colour of wheat 2 polygene's
(b)- Human skin colour 3 polygene's
(c)- Human height  5 polygene's
(d)- human intelligence  25 polygene's
Father of polygenic inheritance – Kolreuter
(a)- Kernel colour of wheat :-
Studied by Nilsson- Ehle.
Controlled by 2 polygene's ‘A’ and ‘B’.
 POLYGENIC / QUANTITATIVE INHERITANCE
Parent Max. expression X Min. expression
AABB aabb
No. of
Red White
Domin
Genotype Phenotype Ratio
ant
F1 AaBb Intermediate alleles
red 4 AABB -1 Red 1
Selfing
3 AABb -2 4
F2 AaBb X AaBb Light red
AaBB -2
2 AaBb -4 Intermediate
AABB AABb AaBB AaBb AAbb -1 6
red
AABb AAbb AaBb Aabb aaBB -1
AaBB AaBb AAbb aaBb Aabb -2 Very light red 4
1 aaBb -2
AaBb Aabb aaBb aabb 0 aabb -1 White 1
 POLYGENIC / QUANTITATIVE INHERITANCE
Parent Max. expression X Min. expression In F2 generation :-
AABB aabb (1) P.R. :- 1 : 4 : 6 : 4 : 1
Red White
(2) G.R. :- 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
F1 AaBb
(3) Types of phenotype :- 2n + 1
Selfing 2x2+1=5
F2 AaBb X AaBb (4) Type of Genotype :- 3n = 32= 9

AABB AABb AaBB AaBb

(5) Zygotic combination :- 4n = 42= 16
AABb AAbb AaBb Aabb
2
AaBB AaBb AAbb aaBb (6) % of parental plant :- 100 = 12.5%
16 X
AaBb Aabb aaBb aabb
 POLYGENIC / QUANTITATIVE INHERITANCE

No. of Bell Shaped curve

Domin
Genotype Phenotype Ratio
ant
alleles
6 Continuous
4 AABB -1 Red 1 variation
3 AABb -2 4
Light red 4
AaBB -2
2 AaBb -4 Intermediate
AAbb -1 6 1
red
aaBB -1
0 1 2 3 4
Aabb -2 Very light red 4
1 aaBb -2 No. of Dominant alleles
0 aabb -1 White 1
 POLYGENIC / QUANTITATIVE INHERITANCE
(b)- Human skin colour 3 polygene's
Studied by Davenport. No. of
Controlled by 3 polygene's ‘A’ ‘B’ and ‘C’. Dominant Phenotype Ratio
alleles
Parent Max. expression X Min. expression
AABBCC aabbcc 6 Negro Black 1
Negro Black White 5 Very Dark Brown 6

Intermediate 4 Dark Brown 15

F1 AaBbCc Brown/ Mulatto Mulatto
3 20
Sib mating 2 Light Brown 15
F2 AaBbCc X AaBbCc 1 Very Light Brown 6
Checker board of 64 0 White 1
 POLYGENIC / QUANTITATIVE INHERITANCE
In F2 generation :-
(1) P.R. :- 1 : 6 : 15 : 20 : 15 : 6 : 1

(2) G.R. :- (1 : 2 : 1 ) X (1 : 2 : 1 ) X (1 : 2 : 1 )

(3) Types of phenotype :- 2n + 1

2x3+1=7
(4) Type of Genotype :- 3n = 33= 27

(5) Zygotic combination :- 4n = 43= 64

2
(6) % of parental plant :- 100 = 3.125%
64 X
 POLYGENIC / QUANTITATIVE INHERITANCE

No. of Bell Shaped curve

Dominant Phenotype Ratio
alleles
6 Negro Black 1 Continuous
20
5 Very Dark Brown 6 variation
4 Dark Brown 15 15

3 Mulatto 20 6

2 Light Brown 15 1
1 Very Light Brown 0 1 2 3 4 5 6
6
No. of Dominant alleles
0 White 1
 POLYGENIC / QUANTITATIVE INHERITANCE
Question :- A quantitative character is
controlled by four polygene's. Find out
probability of parental plant in F2
generation ?
Solution :-

Polygene's :- four
Zygotic combination :- 4n = 44= 256
2
Parental plant =
256
 POLYGENIC / QUANTITATIVE INHERITANCE
Question :- in F2 generation of A
quantitative character 17 phenotypic
categories are obtained. This character
is controlled by how many polygene's ?

Types of phenotype :- 2n + 1
17 = 2n+ 1
17 - 1 = 2n
16 = 2n
n =8
 POLYGENIC / QUANTITATIVE INHERITANCE
Contribution of Max. expression -Min. expression
each dominant = Total no. of dominant alleles
allele
Phenotype of
given genotype
= Min. expression +(Contribution of each X no. of dominant)
dominant allele alleles
POLYGENIC / QUANTITATIVE INHERITANCE
 POLYGENIC / QUANTITATIVE INHERITANCE
Question :- A plant is homozygous for AABB(max.) :- 200 cm
A and B alleles have 200 cm height aabb(min.) :- 120 cm
while the minimum height of plant is
120 cm. find out :- 200 - 120 80
Contribution :- = = 20
4 4
(1) Contribution of each dominant
allele.
(2) Height of Aabb genotypic plant. Height of Aabb :- 120 + ( 20 X 1 )
= 120 + 20
= 140
 POLYGENIC / QUANTITATIVE INHERITANCE
Question :- A plant with genotype TtRrGg :- 300 gm
TtRrGg produce fruit of weight 300 gm ttrrgg(min.) :- 210 gm
while the minimum weight of fruit is
210 gm. find out :- 300 - 210 90
Contribution :- = = 30
3 3
(1) Contribution of each dominant
allele. Max. weight (TTRRGG) :- 210 + ( 30 X 6 )
(2) Max. weight of fruit. = 210 + 180
(3) Weight of fruit of TTRrGg genotypic = 390
plant
Weight of TTRrGg :- 210 + ( 30 X4)
= 210 + 120
= 330
 CYTOPLASMIC INHERITANCE
 It is also called extranuclear/ maternal inheritance
Nucleus
Cytoplasmic Gene

Cytoplasmic Gene 1 1
2 2
Plasmon Cytoplasmic
Gene Mitochondria 3 3
. .
. .
Cytoplasmic X . Y .
Gene
Chloroplast
 CYTOPLASMIC INHERITANCE
+ Gamete Gamete

N+ N
C
C+
X
N
Cytoplasmic
inheritance:-
C+ N+ Zygote(Next Generation)
Shown by only
female.
 CYTOPLASMIC INHERITANCE
 Discovered by Carl Correns in Mirabilis jalapa.
 Inheritance of those characters which are controlled by
cytoplasmic genes is called cytoplasmic inheritance.
 Gene present in cytoplasm is called cytogene/
extranuclear gene.
 Cytogenes are present in cell organelles like
mitochondria (mitogene) and plastid (plastogene).
 Sum total of all the cytogenes present in a cell is called
Plasmon.
 Since zygote receives most of the cytoplasm from female
gamete, so cytoplasmic inheritance is also called as
maternal inheritance.
 CYTOPLASMIC INHERITANCE
 Example of mitochondrial inheritance :-
 Male sterility in maize plant
 Example of plastid inheritance :-

a) Albinism in certain plants

 Gene for albinism is found in chloroplast.
 Gene for albinism in corn/ maize is lethal.
b) Branch colour/ leaf colour in Mirabilis jalapa
 First case of cytoplasmic inheritance to be
discovered by Carl Correns.
 CYTOPLASMIC INHERITANCE
Branch colour in Mirabilis jalapa

Green Pale Variegated

Due to presence Due to presence Due to presence of both
of chloroplast of leucoplast chloroplast and leucoplast.

N N N
C L C L

Chloroplast Leucoplast
 CYTOPLASMIC INHERITANCE
+ Pale / Green + Green / Pale
Green Pale
/ Variegated / Variegated

N N N
N
C L C
L

NN NN

C L
Pale
Green
 CYTOPLASMIC INHERITANCE
+ Pale / Green
Variegated
/ Variegated

N
C L

Variegated
/Pale / Green
 CHROMOSOMAL THEORY OF INHERITANCE
 Proposed by Sutton and Boveri in 1902.
 Sutton united the knowledge of Mendel’s principle
(factor)With chromosomal behavior during the
meiosis and gave Chromosomal theory of inheritance.
 According to this theory the behavior of gene(factor) is
similar(parallel) to behavior of chromosomes.
 CHROMOSOMAL THEORY OF INHERITANCE
A B
Occur in pairs Occur in pairs
Segregate at the time of Segregate at gamete
gamete formation such formation and only one
that only one of each of each pair is
pair is transmitted to a transmitted to a
gamete. gamete.
Independent One pair segregates
pairs segregate independently of
independently of another pair
each other
CHROMOSOMAL THEORY OF INHERITANCE
 CHROMOSOMAL THEORY OF INHERITANCE
 This theory Experimentally proofed by T.H. Morgan .
 He performed experiments on Drosophila
melanogaster (fruit fly).

Male Female
 CHROMOSOMAL THEORY OF INHERITANCE
Question :- why did Morgan select drosophila for experiment ?
 They could be grown on simple synthetic medium
(ripe banana) in the laboratory.
 They complete their life cycle in about two weeks.
 A single mating could produce a large number of
progeny flies.
 There is a clear differentiation of the sexes – male
(small) and female (large)
 It has many types of hereditary variations that can
be seen with low power microscopes.
 It has less number of chromosomes (2n=8)
 LINKAGE
 Exception of Mendel's law of independent assortment.
 Physical association of genes present on same chromosome
and inheritate as a group is called linkage.

Gene(A)

Gene(B)
Linked
genes
Gene(C)
Gene(D)
 LINKAGE
 Linkage first time observed by Bateson and Punnett.
 Linkage term and detail study by T.H.Morgan.
 He performed experiments on Drosophila
melanogaster (fruit fly) and gave linkage theory
 According to this theory :-
(a) Genes show linkage called linked genes
(b) Linked genes are nonallelic
(c) Linked genes are present on same chromosomes
 LINKAGE
(d) Linked genes can be separated by crossing over
Crossing over :- exchange of genes between non -
sister chromatids of homologus chromosomes
 LINKAGE

A a A a
Crossing
Link over
age
B b b B

Strength of 1 1
linkage Crossing over Distance between linked
(Recombination) genes
 LINKAGE
A a A a
B b
Distance Distance
D d
Crossing over Crossing over

Low Recombination High Recombination

Linkage Linkage

Tightly Linked genes Loosely Linked genes

 LINKAGE
Factor’s Crossing over linkage
Distance
Euchromatin
Heterochromatin
Age

Female
Sex
Male
 LINKAGE
Arrangement of linked genes

Cis/Coupling Trans/Repulsion
++ +b
ab a+

A a A a
B b b B
 LINKAGE
Types of linkage

Complete linkage Incomplete linkage

 COMPLETE LINKAGE
(1) Complete linkage :- Parental cell
 Very rare A a
B b
 In this linkage crossing over does not
occur between the genes
 linkage :- 100% Crossing over
 Crossing over :- 0% absent
A a
 New combination :- 0 % B b New
 Parental combination :- 100% gametes = 0%
E.g. :- few genes of male Drosophila Gametes Par. Par.
and female Silkworm
 COMPLETE LINKAGE
Complete linkage behave just like monohybrid cross.
 COMPLETE LINKAGE
Question:- genotype of plant is
+ + r e in ++re
d g++ d g++
which all 4 genes show complete linkage .
Write down genotype of gametes produce
D d
by this plant ? G g
r R
e E

Gametes :-
1. D G r e
2. d g R E
 COMPLETE LINKAGE
Question:- genotype of plant is RrTtDd in
which all R and T genes show complete linkage
R r
with cis arrangement, and D genes present on
T t D d
non homologus chromosomes. Write down
genotype of gametes produce by this plant ?
D = RTD
RT
d = RTd
D = rtD
rt
d = rtd
 INCOMPLETE LINKAGE
(2) Incomplete linkage :-
 Most common type of linkage.
 In this linkage crossing over occur between
the genes.
 So new combinations are formed but parental
combinations are grater than new combinations.
 INCOMPLETE LINKAGE
A a Parental cell A a
Parental type gametes:- 6
New type gametes:- 2
B b B b
Parental Recombinant
type > type
A A a a A A a a

B B b b B B b b

A A a a A A a a
B b B b B B b b
Gametes Par. New New Par. Par. Par. Par. Par.
 INCOMPLETE LINKAGE
 Maximum frequency of recombination is 50%.
 It happen when crossing over occur in all cells
with respect to desired genes.
 INCOMPLETE LINKAGE
Question :- genotype of plant is
+ + in
ab ++
which genes show 20% recombination. ab
A a
Find out percentage of gametes which B b

contains ‘+b’ genotype?

AB = 40 %
Parental
80% ab = 40 %

Ab = 10 %
Recombinant
20% aB = 10 %

+b = 10 %
 INCOMPLETE LINKAGE
Question :- Genotype of plant is
+ r in
d+ +r
which genes show 30% recombination. D d d+
Find out percentage of gametes which r R

contains ‘++’ genotype?

Dr = 35 %
Parental
70% dR = 35 %

DR = 15 %
Recombinant
30% dr = 15 %

++ = 15 %
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
 First prepared by :- Alfred Sturtevant
 It is diagrammatic presentation of linked
genes present on same chromosomes.
 It is based on result of test cross.
 It gives two information :-
a) Sequence of linked genes on chromosomes.
b) Distance between linked genes.
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Recombination No. of recombinant offspring's
frequency = Total no. of offspring's
X 100

% of Recombination(C.O.) Distance

 1 % recombination = 1 map unit distance (1mu)

or
1 centi Morgan (1cM)
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- There are three genes a, b, c.
Percentage of crossing over between a and b is
ab = 20 cm
20%, b and c is 28% and a and c is 8%. What is the cb = 28cm
sequence of genes on chromosome? ac = 8 cm
(1) b, a, c
(2) a, b, c
(3) a, c, b 8 cm 20cm
(4) c, b, a
c a b
28 cm

Ans. = c a b or bac
Ans. = 1
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- the recombination frequency between
linked genes are :-
DC = 25 %
DB =35 %
DA = 40 % 15
CB = 10 %
5 10 25
CA = 15 %
AB = 5 % A B C D
What is the sequence of genes on
chromosome?
40

Ans. = ABCD or DCBA

 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- Result of test cross in Drosophila is :-
++/ab = 41
Recombinant progeny :- 18
ab/ab = 41 Total progeny :- 100
+b/ab = 9
Reco. % = 18 X 100 = 18 %
a+/ab = 9 100
Find out :- Distance = 18 cm
(1) % of recombination (Cis / Coupling)
(2) Distance between linked genes
(3) Cis / Trans
(4) Coupling / Repulsion
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- Result of test cross in a plant is :-
++/ab = 202
Recombinant progeny :- 400
ab/ab = 198 Total progeny :- 2000
+b/ab = 798
Reco. % = 400 X 100 = 20 %
a+/ab = 802 2000

Find out :- Distance = 20 cm

(1) % of recombination (Trans / Repulsion)
(2) Distance between linked genes
(3) Cis / Trans
(4) Coupling / Repulsion
 LINKAGE GROUP
Linkage Group :- genes present on a chromosome or
pair of homologus chromosomes form one linkage group.
No. of No. of pairs of No. of chromosome
Linkage Group
= homologus chromosomes
or
present in a haploid cell
 LINKAGE GROUP
No. of No. of pairs of No. of chromosomes
Linkage = homologus or present in a
Group chromosomes haploid cell

In human = 2n = 46
Pairs = 23
Haploid cell n = 23
Linkage Group = 23
 LINKAGE GROUP
Organism 2n n Linkage group

Pea 14 7 7

Drosophila 8 4 4

Onion 16 8 8

Female 46 23 23
Human
Male 46 23 24
Bacteria 1
 LINKAGE GROUP
Transfer of genes from one linkage group to
another linkage group is called translocation

A a

Translocation

1st linkage 2nd linkage

group group
 MORGAN’S EXPERIMENT
Brown y+ (wild)
1st Character :- Body Colour
Yellow  y (mutant)
Cross A
Red w+ (wild)
2nd character :- Eye Colour
White  w (mutant)
Cross B
Normal m+ (wild)
3rd character :- Wing size
Miniature  m (mutant)

 Genes all these characters are located on X-chromosome

 MORGAN’S EXPERIMENT
Cross A Cross B

Wing
Body Eye size
Colour Colour

X chromosomes

Parental :- 98.7 % 62.8 %

Recombinant :- 1.3 % 37.2 %

MORGAN’S EXPERIMENT
MORGAN’S EXPERIMENT
 SEX LINKAGE
 Genes that are located on sex chromosome are
called sex linked genes and their inheritance is
called sex linked inheritance.
 Sex linkage was discovered by Morgan.
 He studied eye colour of drosophila and
performed reciprocal and test cross and found that
gene of eye colour is located on X chromosome.
Eye colour of drosophila

Red White
Xw+ or X+ Xw
 SEX LINKAGE
Genotype :- X+ ,Xw

+
X+ X+ = Homozygous red eyed X+ Y = Hemizygous red eyed

X+ Xw = Heterozygous red eyed Xw Y = Hemizygous white eyed

Xw Xw = Homozygous white eyed

 SEX LINKAGE
Question :- a heterozygous red eyed
female Drosophila, is crossed with
+
Heterozygous Hemizygous
hemizygous red eyed male Drosophila. red eyed red eyed
Find out percentage of red eyed female
offspring's ? X+ Xw X+ Y

% of Red eyed female = 2 X 100 = 100 %

X+ Y
2
X+ X+ X+ Y
% of Red eyed male = 1 X 100 = 50 % X+ Red eyed Red eyed
2 +
Xw X+ Xw Xw Y
% of Red eyed offspring's = 3 X 100 = 75 % Red eyed White eyed
4 +
 SEX LINKAGE IN HUMAN
Non - H
Homologus Non -
region of X G Homologus
chromosome K
F region of Y
J chromosome
E
X- linked I
D
genes Homologus Y- linked
C C genes
Region of X Y
Biparental B chromosome B
A XY - linked A Uniparental
genes
Biparental Y Present only in male
X – Holandric gene
 SEX LINKAGE IN HUMAN
XY – linked genes :-
Genes present on homologus region of X and Y
chromosomes.
Biparental.
 SEX LINKAGE IN HUMAN
Y – linked genes :-
Genes present on non homologus region of Y chromosomes.
Uniparental
Present only in male.(Holandric gene) K
J
Ex :-
I
1- SRY (Sex determining region on Y- Chr.) gene /
TDF (Testis determining factor) gene :- C Y- linked
B genes or
 Synthesises a protein- TDF.
holandric
A
2- Hypertrichosis – Excessive hairs on ear pinna. genes

3- Porcupine skin – Rough skin. Y

 SEX LINKAGE IN HUMAN
X – linked genes :-
Genes present on non homologus region of X chromosomes.
Biparental
Two types

X – linked Recessive X – linked Dominant

 SEX LINKAGE IN HUMAN
(1) X – linked Recessive( XR )
a) Haemophilia H
b) Colourblindness X-
linked K
c) Glucose -6- phosphate J
dehydrogenase deficiency (G6PD) genes
I
D
d) DMD(Duchenne muscular dystrophy)
Due to non- synthesis of dystrophin protein. C C Y- linked
XY-
Gene for dystrophin synthesis is largest gene of B B genes or
linked
human ( 2.4 million bps). holandric
A genes A
genes
e) Diabetes insipidus
X Y
 SEX LINKAGE IN HUMAN
(2) X – linked Dominant ( XD )
a) Pseudorickets ( Vitamin D resistance rickets)
b) Defective enamels of teeth
 HAEMOPHILIA
Haemophilia
 X- linked (sex – linked) recessive disease.
 Also called “ bleeder’s disease”.
 First discovered by John Otto.
 Blood clotting time is delayed due to the
absence of some blood clotting factor and
person die due to excessive bleeding.
 Deficiency of clotting factors is because of
mutation in some genes of X chromosome.

Blood clotting Normal person :-1 – 8 min.

time
Haemophilic person :- 30 min. – 24 hr.
 HAEMOPHILIA
Three types of haemophilia

(1) Haemophilia – A :-
 Most common type of haemophilia.

 It is Royal disease :-

First seen in royal family of England/ queen Victoria family.

She was carrier of this disease.

 Due to absence of blood clotting factor – VIII.

This factor also called Antihaemophilic Globulin(AHG).

 HAEMOPHILIA
(2) Haemophilia – B / Christmas disease :-
 Rare .
 Due to absence of blood clotting factor – IX.
This factor also called - Christmas factor
or Plasma Thromboplastin Component (PTC).

(3) Haemophilia – C :-
 Very rare.
 Autosomal disease.
 Due to absence of blood clotting factor – XI.
This factor also called -
Plasma Thromboplastin Antecedent (PTA).
 HAEMOPHILIA
Genotype :- Haemophilia

X+ Xh
Normal Haemophilic

+
X+ X+ = Normal X+ Y = Normal
X+ Xh = Normal but carrier Xh Y = Haemophilic

Xh Xh = Haemophilic
Die during
emryonic stage
 COLOUR BLINDNESS
Colourblindness :-
 X- linked (sex – linked) recessive disease.
 Discovered by Horner.
 Colourblind person is unable to differentiate
some basic colours like red and green due to
defect in cone cells.
 This defect is due to certain genes present on the
‘X’ chromosomes.
 Colour blindness is checked by :- Ishihara chart.
Type of colour blindness :-
1) Protanopia – Red colourblindness
2) Deuteranopia – Green colourblindness
 COLOUR BLINDNESS
X+ Xc
Mutation
Wild Allele Mutant Allele
Normal vision Colourblind vision

+
X+ X+ = Normal X+ Y = Normal
X+ Xc = Normal but carrier Xc Y = Colourblind

Xc Xc = Colourblind
Case of = 1 X 100 = 33.3 % Case of = 1 X 100 = 50 %
Colourblind 3 Colourblind 2
 COLOUR BLINDNESS
 It is not a lethal disease, so found in both
males and females.
 This disease more common in males.
Due to hemizygous condition.
 It occurs in about 8% of males and about
0.4% of females.
COLOUR BLINDNESS
 COLOUR BLINDNESS
If father is normal than
daughter should be normal
Colourblind X Normal
If mother is colour blind
XcXc X+Y
than son should be colour
blind .
Xc X+ Y

X+Xc XcY
Normal
Colourblind
(Carrier)
Son
Daughter
 COLOUR BLINDNESS
Father
Question :- A haemophilic male
Haemophilic
marries with a normal female whose Xh Y
father is also haemophilic. Find out
percentage of their son to be
haemophilic ? Haemophilic
X +
Normal
Xh Y X+ X+ / X+ Xh

X+ Xh
X+ Xh Xh Xh
Son haemophilic = 1 X 100 = 50% Xh
Haemophilic
2 Normal +
+
Y X+ Y Xh Y
Normal Haemophilic
 COLOUR BLINDNESS
Mother Mother
Question :- A male has colourblind
colourblind colourblind
mother. This male marries with a Xc Xc Xc Xc
normal female whose mother is also
colourblind. Find out percentage of
their daughter to be colourblind ?
X +
Normal
Xc Y + c
X+ X+ / X X

X+ Xc
X+ Xc Xc Xc
Daughter colourblind = 1 X 100 = 50% Xc Colourblind
2 Normal +
+
Y X+ Y Xc Y
Normal Colourblind
 COLOUR BLINDNESS
Father Father
Question :- A normal male has
colourblind colourblind
colourblind father. This male marries Xc Y
Xc Y
with a normal female whose father is
also colourblind. Find out percentage
of their daughter to be colourblind ?
X +
Normal
Normal + c
X+ Y X+ X+ / X X

X+ Xc
X+ X+ X+ Xc
Daughter colourblind = 0 % X+ Normal
Normal
+ +
Y X+ Y Xc Y
Normal Colourblind
 COLOUR BLINDNESS
Question :- A colourblind male Father Mother
marries with a female whose father colourblind
c
normal
is colourblind but mother is
X Y X+X+
homozygous normal. Find out
percentage of their daughter to be
carrier of colourblindness ? Colourblind X +c
Xc Y X+ X

X+ Xc
X+ Xc Xc Xc
Daughter carrier = 1 X 100 = 50% Xc Colourblind
2 Normal +
+
Y X+ Y Xc Y
Normal Colourblind
 TYPES OF INHERITANCE OF SEX LINKED CHARACTER
2 Types

Criss cross inheritance Non – criss cross inheritance

Genes are transferred Genes are transferred
from parent to offspring from parents to offspring
through opposite sex. through same sex.
 TYPES OF INHERITANCE OF SEX LINKED CHARACTER
(1) Criss cross inheritance :-
 Given by Morgan.
 Genes are transferred from parents to offspring
through opposite sex.
Mother Father
2 Types
XX XY
Diandric Diagenic/ Diagynic
Daughter
Mother Father
XX
Son Daughter
Grand son
Grand daughter Grand son XY
 TYPES OF INHERITANCE OF SEX LINKED CHARACTER
(2) Non - criss cross inheritance :-
Genes are transferred from parents to offspring
through same sex.
2 Types
Mother Father
XX XY
Holandric Hologenic/ Hologynic
Father Mother Son

Son Daughter
XY

Grand son Grand daughter Grand son

XY
 SEX LIMITED CHARACTER
Genes are present on autosomes.
Genes are present in both male and female.
Genes are expressed only in one of the sex,
either male or female, under the influence of
sex hormone.
Examples :-
Secondary sexual characters in humans :-
a) Beard and moustache in male
b) Mammary glands in female
 SEX INFLUENCED CHARACTER
 Genes are present on autosomes.
 Genes are present in both male and female.
 Genes are expressed in both the sex but more
frequently in one of the sex, under the influence
of sex hormone.
Example :-
Pattern baldness in human – More common
in males.
Genotype Male Female
BB Bald Bald
Bb Bald Not Bald
bb Not Bald Not Bald
 SEX DETERMINATION
Homogametic parent Heterogametic parent
 Both sex chromosomes are  Both sex chromosomes are
similar and produce one type dissimilar and produce 2 types
of gamete. of gametes.
 Decide sex of the offspring's.
Ex – Human female  Ex – Human male
A+X A+X

AA + XX AA + XY
A+X A+Y
 SEX DETERMINATION
 Establishment of sex of an organism at an early stage of
life is called sex determination.
 On the basis of fertilization, sex determination is of
following types:

1) Progamic:- Sex determination before fertilization.

Ex. – Male honey bee (Drone)
2) Syngamic:- Sex determination during fertilization.
Ex. – Most of the plants and animals.

3) Epigamic:- Sex determination after fertilization.

Ex. – Crocodile, Turtle.
(Environmental basis of sex determination)
 SEX DETERMINATION
Mechanism of sex determination :-

(1) Allosomic (sex chromosomes) method of sex determination

(2) Haploid – Diploid Mechanism of sex determination
(3) Genic balance theory
(4) Environmental basis of sex determination
 (1) ALLOSOMIC METHOD OF SEX DETERMINATION
 In this method sex of an offspring is determined by
Sex Chromosome/ Heterosome / Allosome.
 Chromosomal theory of inheritance was proposed by :-
Wilson and Stevens
Sex Chromosome

X – Chromosome Y – Chromosome
Discovered by Henking Discovered by Stevens
in insect and called it as and called it as Y - Body
X-body
 TYPES OF ALLOSOMIC SEX DETERMINATION
(A) XX – XY type or Lygaeus type

Female Male

AA + XX AA + XY

A+ X A+ X A+ X A+ Y

Homogametic Heterogametic

 1st observed by Wilson and Stevens in Lygaeus insect.

 Example – Human, many mammals, Drosophila.
 TYPES OF ALLOSOMIC SEX DETERMINATION
(B) ZW– ZZ type or XY – XX type

Female Male

AA + ZW AA + ZZ

A+ Z A+ W A+ Z A+ Z

Heterogametic Homogametic

 Example – Most of birds (Fowl)

 TYPES OF ALLOSOMIC SEX DETERMINATION
(C) XX – Xo type or Protenor type

Female  Have odd no. of chromosome

Male
 Deficiency of one sex chromosome
AA + XX AA + XO  Found monosomic condition

(AA +XO) + (AA +XX)

A+ X A+ X A+ X A+ O

Homogametic Heterogametic
Chromosome no. Chromosome no.
= 23 = 24
 Example –
Most of the insects like grasshopper, cockroach
 (2) HAPLOID – DIPLOID MECHANISM
Haploid – Diploid Mechanism of sex determination :-
 Seen in insects like honey bee.
 Based on no. of sets of chromosome.
 Haploid (one set)  Male (drone)
Queen
 Diploid (Two sets)  Female
Worker
 (2) HAPLOID – DIPLOID MECHANISM
Female Male
(2n=32) (n=16)

Meiosis Mitosis

n=16 n=16 Fertilization n=16

Queen
(Fertile
Parthenogenesis +)
Male Female
(n=16) (2n=32) Worker
(Sterile
+)
 (2) HAPLOID – DIPLOID MECHANISM
 Male honey bee(Drone) does not have father but have grandfather.
 Male honey bee(Drone) does not have son but have grandson.
 (3) GENIC BALANCE THEORY
 Proposed by C.B. Bridges for sex determination
in Drosophila.

 According to Bridges, in Drosophila Y-

chromosome does not play active role in sex
determination.
Male
 In Drosophila, Y - chromosome plays role in Female
spermatogenesis so Y - chromosome is essential
for the production of fertile male.

 In the absence of Y – chromosome, sterile male

develops.

Male
 (3) GENIC BALANCE THEORY
 In Drosophila :-
 Gene for femaleness  on X – chromosome
 Gene for maleness  on autosome
 Gene for male fertility  on Y – chromosome

 In Drosophila, sex is determined by Sex Index Ratio (SIR).

 (3) GENIC BALANCE THEORY
Sex Index Ratio = No. of X – chromosomes (X)
(SIR) No. of sets of autosome (A)

If value of X/A ratio is :-

1 = Normal Female
0.5 = Male
> 1 = Super female / meta female
< 0.5 = Super male / meta male Sterile
Between 0.5 – 1 = Intersex
 (3) GENIC BALANCE THEORY
X 2
2A + XX = = = 1  Normal female
If value of X/A ratio is :- A 2
1 = Normal Female X 1
2A + XY = = = 0.5  Fertile male
0.5 = Male
A 2
X 1
> 1 = Super female / meta female 2A + Xo = = = 0.5  Sterile male
A 2
< 0.5 = Super male / meta male
X 2
3A + XX = = = 0.66  Inter sex
Between 0.5 – 1 = Intersex A 3
X 1
3A + X0 = = = 0.33  Super male
A 3
X 3
2A + XXX = = = 1.5  Super female
A 2
 (3) GENIC BALANCE THEORY
KARYOTYPE :-
6 Autosomes
Drosophila  2n = 8
2 Sex chromosomes

1 1
2 2
2A + XY
3 3 1
= X = = 0.5
A 2
X Y Fertile male
 (3) GENIC BALANCE THEORY

2A + XX 2A + X
2 1
=X = =1 = X = = 0.5
A 2 A 2
Fertile female Sterile Male
 (3) GENIC BALANCE THEORY

3A + XX 3A + X
2 1
= X = = 0.66 = X = = 0.33
A 3 A 3
Inter sex Super male
 (3) GENIC BALANCE THEORY

2A + XXX
3
= X = = 1.5
A 2
Super female
 CYTOLOGICAL BASIS OF SEX IDENTIFICATION
Barr body technique or Lyon’s Hypothesis :-
 In mammalian female, one X –chromosome is randomly
and temporarily inactive.
 Barr body is facultative heterochromatin.

X X
 CYTOLOGICAL BASIS OF SEX IDENTIFICATION
In mammalian female, Barr body can be seen in
neutrophils.
 In neutrophils, Barr body is called drumstick Nucleus

Barr body
 CYTOLOGICAL BASIS OF SEX IDENTIFICATION
No. of barr body = No. of X chromosomes – 1

Normal female (2A + XX) = 2 – 1 = 1 Barr body

Normal male (2A + XY) = 1 – 1 = 0 Barr body
Turner syndrome(2A + X0) = 1 – 1 = 0 Barr body
Klinefelter syndrome(2A + XXY) = 2 – 1 = 1 Barr body
 HUMAN GENETICS
 Study or analysis of genetics characters in human is called

human genetics.

Eugenics :-
 Improvement of human being by applying principles of genetics.

 Father of eugenics – Francis Galton.

 HUMAN GENETICS
Direct study of genetics in human is not possible :-

 Controlled genetic crosses can not be performed in human.

 Long life span, so, very long time is required to study genetic
characters.
 Reproduction rate is low (less number of offsprings).
Humans have large number of quantitative / polygenic
characters.
 Human cells are smaller in size, but number of chromosomes
are more
 HUMAN GENETICS

Indirect methods to study human genetics :-

1) Pedigree analysis
2) Population genetics
3) Karyotype analysis :-
 HUMAN GENETICS
Genetic disorders

Chromosomal disorder Mendelian disorder

 Change in chromosomes no.
 Change in structure and
 Studied by karyotype analysis
function of gene
Ex- Down syndrome – 21st chromosome
 Studied by pedigree analysis
Klinefelter syndrome – (XXY) – Male
Turner syndrome – (XO) – Female
 HUMAN GENETICS
Mendelian disorder

Autosomal Sex - linked

Dominant Recessive X - linked Y - linked

Dominant Recessive
 PEDIGREE ANALYSIS
Pedigree = Family tree
 It is a record of some genetic characters or
diseases for two or more generation in a family,
which is represent by some specific symbol.
 PEDIGREE ANALYSIS
Pedigree = Family tree
 It is a record of some genetic characters or
diseases for two or more generation in a family,
which is represent by some specific symbol.

Normal Female

Normal Male

Affected Female

Affected Male
 PEDIGREE ANALYSIS
Heterozygous / carrier for autosomal
recessive disease

Carrier female of sex linked recessive

disease

Sex unspecified

5 Five unaffected offspring's

 PEDIGREE ANALYSIS
Death of individual

Abortion or still birth

(Death during embryonic stage)

Mating (marriage)

Consanguineous marriage
(Marriage between close relatives )
PEDIGREE ANALYSIS

Monozygotic twins

Dizygotic (fraternal)
twins
 PEDIGREE ANALYSIS

II
1 2 3 4
Pedigree analysis

III
 PEDIGREE ANALYSIS
Autosomal

Autosomal Recessive disease (AR) Autosomal Dominant disease (AD)

A a A a
Dominant Recessive (Disease) Dominant Recessive
(Disease)
AA :- Normal
Aa :- Normal but carrier AA :- Affected
Aa :- Affected
aa :- Affected aa :- Normal
 Sickle cell anaemia  Huntington’s chorea
 Thalassemia  Myotonic dystrophy
 Phenylketonuria  Polydactyly
 Alkaptonuria
 Albinism
 PEDIGREE ANALYSIS
X – linked

X – linked Recessive (XR) X – linked Dominant (XD)

X+ Xa
Dominant Recessive (Disease)

+
+ + = Normal
X X X+ Y = Normal
X+ Xa = Normal but carrier
Xa Y = Affected
Xa Xa = Affected
(1) Haemophilia (3) G6PD
(2) Colourblindness (4) DMD(Duchenne muscular dystrophy)
 PEDIGREE ANALYSIS
X – linked Dominant (XD)
X+ Xa
Dominant Recessive
(Disease)

+
X+ X+ = Affected X+ Y = Affected
X+ Xa = Affected Xa Y = Normal
Xa Xa = Normal
(1) Pseudorickets ( Vitamin D resistance rickets)
(2) Defective enamels of teeth
 PEDIGREE ANALYSIS
Y – linked :-
If father affected than all son should be affected
 PEDIGREE ANALYSIS
Cytoplasmic inheritance / Maternal inheritance :-
If mother affected than all offspring’s should be affected.
If father affected than any offspring’s is never affected.
 PEDIGREE ANALYSIS
Question :- Given pedigree show the inheritance of
alkaptoneuria. What will be the genotype of all
members of given pedigree ?

Alkaptoneuria :-
Autosomal recessive disease

AA :- Normal
Aa :- Normal but carrier
aa :- Affected
 PEDIGREE ANALYSIS
Question :- Given pedigree show the inheritance of
colourblindness. What will be the genotype of all
members of given pedigree ?
Colourblindness :-
X- linked recessive disease
+
+ + = Normal
X X
X+ Xc = Normal but carrier
Xc Xc = Affected

X+ Y = Normal
Xc Y = Affected
 PEDIGREE ANALYSIS
Question :- Given pedigree show the inheritance of
myotonic dystrophy. What will be the genotype of all
members of given pedigree ?

Myotonic dystrophy :-
Autosomal dominant disease

AA :- Affected
Aa :- Affected
aa :- Normal
 PEDIGREE ANALYSIS
Step 1 :- if both parents are normal and any one
child affected than AD and XD do not possible.
Step 2 :- if both parents are affected and any one
child normal than AR and XR do not possible.
If step 1 and 2 do not apply than AR and AD possible.
Step 3 :-
XR does not Father normal daughter affected
possible Mother affected son normal
If step 3 does not apply than XR possible.
Step 4:-
Father affected daughter normal
XD does not
possible Mother normal son affected
If step 4 does not apply than XD possible.
PEDIGREE ANALYSIS
Question 1 :- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 2:- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 3:- Given pedigree is
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
PEDIGREE ANALYSIS
Question 4 :- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 5:- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 6 :- Given pedigree
is show the inheritance of :-

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 7 :- Given pedigree
show the inheritance of :-

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 8 :- Given pedigree
show the inheritance of :-

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 9 :- Given pedigree
show the inheritance of :-
NCERT

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 10 :- Given pedigree
show the inheritance of :-
NCERT

Pedigree analysis

AR
AD
XR
XD
 PEDIGREE ANALYSIS
Y – linked :-
If father affected than all son should be affected
 PEDIGREE ANALYSIS
Cytoplasmic inheritance / Maternal inheritance :-
If mother affected than all offspring’s should be affected.
If father affected than any offspring’s is never affected.
 PEDIGREE ANALYSIS
Question :- Given pedigree show the inheritance of
alkaptoneuria. What will be the genotype of all
members of given pedigree ?

Alkaptoneuria :-
Autosomal recessive disease

AA :- Normal
Aa :- Normal but carrier
aa :- Affected
 PEDIGREE ANALYSIS
Question :- Given pedigree show the inheritance of
colourblindness. What will be the genotype of all
members of given pedigree ?
Colourblindness :-
X- linked recessive disease
+
+ + = Normal
X X
X+ Xc = Normal but carrier
Xc Xc = Affected

X+ Y = Normal
Xc Y = Affected
 PEDIGREE ANALYSIS
Question :- Given pedigree show the inheritance of
myotonic dystrophy. What will be the genotype of all
members of given pedigree ?

Myotonic dystrophy :-
Autosomal dominant disease

AA :- Affected
Aa :- Affected
aa :- Normal
 PEDIGREE ANALYSIS
Step 1 :- if both parents are normal and any one
child affected than AD and XD do not possible.
Step 2 :- if both parents are affected and any one
child normal than AR and XR do not possible.
If step 1 and 2 do not apply than AR and AD possible.
Step 3 :-
XR does not Father normal daughter affected
possible Mother affected son normal
If step 3 does not apply than XR possible.
Step 4:-
Father affected daughter normal
XD does not
possible Mother normal son affected
If step 4 does not apply than XD possible.
PEDIGREE ANALYSIS
Question 1 :- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 2:- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 3:- Given pedigree is
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
PEDIGREE ANALYSIS
Question 4 :- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 5:- Given pedigree
show the inheritance of :-

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 6 :- Given pedigree
is show the inheritance of :-

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 7 :- Given pedigree
show the inheritance of :-

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 8 :- Given pedigree
show the inheritance of :-

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 9 :- Given pedigree
show the inheritance of :-
NCERT

Pedigree analysis

AR
AD
XR
XD
PEDIGREE ANALYSIS
Question 10 :- Given pedigree
show the inheritance of :-
NCERT

Pedigree analysis

AR
AD
XR
XD
 POPULATION GENETICS
 Study or analysis of genetic characters at
population level is called population genetics.
Population study is essential for :-
1. To study of multiple alleles.
2. To find frequency of given allele.

 Gene Pool :- Sum total of all the genes and

their alleles present in a population.
 POPULATION GENETICS
 Gene flow :- Migration of gene from one
population to another population is called
gene flow.

Population 1ST Population 2ND

 POPULATION GENETICS
 Genetic load :- Presence of harmful recessive
allele in heterozygous condition in a population.

Autosomal recessive disease

AA :- Normal
Aa :- Normal but carrier
aa :- Affected
 POPULATION GENETICS
 Gene frequency :- Proportion of given allele out
of total alleles of a gene in a population.

Frequency of a No. of given allele

given allele =
Total no. of allele
 POPULATION GENETICS
Question :- In a population of 1000 AA = 360
individuals, 360 belong to genotype AA, 480
to Aa and the remaining 160 belong to aa, Aa = 480
then calculate the frequency of allele ‘A’ in Aa = 160
the population?
Total A :- 360 X 2 + 480 = 1200
Total a :- 160 X 2 + 480 = 800
Total alleles = 2000

1200
Frequency of A = = 0.6
2000

800
Frequency of a = = 0.4
2000
 HARDY WEINBERG LAW
 Given by Hardy (British mathematician) and
Weinberg (German physician).
 According to this rule :-
In an ideal population frequency of allele
remain constant generation after generation.
Ideal population means, in this population :-
(1) Random mating occur
(2) No mutation
(3) No migration
(4) No natural selection
(5) Population is large
 HARDY WEINBERG LAW
Factor’s affecting Hardy Weinberg Law :-
(1) Selective mating occur
(2) Mutation occur
(3) Migration occur
(4) Natural selection occur
(5) Genetic drift :-
Sudden changes in gene frequency due to
any reason (sampling error) is called
genetic drift.

1
Genetic drift
Population Size
 HARDY WEINBERG LAW
According to Hardy Weinberg Law :-

p+q=1
Here ,
p = frequency of dominant allele
q = frequency of recessive allele
p+q=1
Square on both side
(p + q)2 = (1)2

P2 + 2pq + q2 = 1
 HARDY WEINBERG LAW
p2 + 2pq + q2 = 1

Here,
p2 = frequency of homozygous dominant genotype/
phenotype/character/organism.

2pq = frequency of heterozygous dominant genotype/

phenotype/character/organism/carrier.

q2 = frequency of homozygous recessive genotype/

phenotype/character/organism.

p2 + 2pq = frequency of dominant genotype/

phenotype/character/organism

p2 + q2 = frequency of homozygous genotype/

phenotype/character/organism
 HARDY WEINBERG LAW
Question :- In a large population, frequency Recessive allele = 0.7
of recessive allele is 0.7, then find out q = 0.7
frequency of homozygous dominant organisms
p+q=1
?
p + 0.7 = 1
p = 1 - 0.7
p = 0.3
Homozygous dominant :- p2
= (0.3)2
= 0.3 X 0.3
= 0.09
 HARDY WEINBERG LAW
Question :- In a random mating population of Recessive phenotype = 0.16
1000 individuals , frequency of recessive q2 = 0.16
phenotype is 0.16, then find out number of q = 0.4
homozygous organisms ?
p+q=1
p + 0.4 = 1
p = 0.6
Homozygous organism :- p2 + q2
= (0.6)2 + (0.4)2
= 0.36 + 0.16
= 0.52 X 1000
= 520
 HARDY WEINBERG LAW
Question :- In a random mating population of
Dominant allele = 90 %
2000 individuals , percentage of dominant 90
p = 90 % = = 0.9
allele is 90%, then find out number of 100
dominant organisms ? p+q=1
0.9+ q = 1
q = 1 - 0.9
q = 0.1
Dominant organism :- p2 + 2pq
= (0.9)2 + 2 x 0.9 x 0.1
= 0.81 + 0.18
= 0.99 X 2000
= 1980
 HARDY WEINBERG LAW
Question :- In a random mating population of Albinic = 36 %
10000 individuals , 36 % are albinic, then find q2 = 36 % = 36
out number of carrier and normal individuals 100
q = 0.6
respectively ?
p+q=1
Albinism :-
p+ 0.6 = 1
Autosomal recessive disease p = 1 - 0.6
AA :- Normal p = 0.4
Aa :- Normal but carrier
Carrier :- 2pq
aa :- Albinic (affected) = 2 x 0.4 x 0.6
= 0.48 X 10000
= 4800
 HARDY WEINBERG LAW
Question :- In a random mating population of p = 0.4 q = 0.6
10000 individuals , 36 % are albinic, then find
out number of carrier and normal individuals Normal :- p2 + 2pq
respectively ? = (0.4)2 + 2 x 0.4 x 0.6
Albinism :- = 0.16 + 0.48
Autosomal recessive disease
= 0.64 X 10000
AA :- Normal = 6400
Aa :- Normal but carrier
aa :- Albinic (affected)
 HARDY WEINBERG LAW
Question :- In a random mating population ofDominant phenotype = 0.51
5000 individuals , frequency of dominant p2 + 2pq = 0.51
phenotype is 0.51, then find out number of p2 + 2pq + q2 = 1
homozygous organisms ? 0.51 + q2 = 1
q2 = 0.49
q = 0.7
p+q=1
p + 0.7 = 1
p = 0.3
Homozygous organism :- p2 + q2
= (0.3)2 + (0.7)2
= 0.09 + 0.49
= 0.58 X 5000
= 2900