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
Unmodified Allele Modified Allele enzyme
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 TT = 41
T t 2
T TT Tt Tt = 4
Gametes
t Tt tt tt = 41

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