GSBTM N-BT-CBC e-CRASH WORKSHOP

JUNE2020

Classical Genetics
to
Modern Genetics
Niraj Kumar Singh
Associate Professor,
Shri AN Patel PG Institute of Science & Research, Anand, Gujarat
 INTRODUCTION

• Why do children in a family resemble one another but

are not exactly alike??

• These kind of similar questions can be answered by

an important branch of biology, called Genetics (Gen
means ‘to become’).

• Genetics is the branch of biology which deals with

heredity and variation among related organism.

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 There are two components in genetics

1. Heredity 2. Variation

• Study of factors responsible • Force or influence due to

for resemblance between which no two organism’s
parents and offspring's are exactly alike

“Transmission of characters “Occurrence of differences

from parents to offspring's” among the individuals of the
same species”

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 Historical Background of Heredity
• The concept of heredity is very old.

• Selective breeding of horses, donkeys, palm etc. was also

done during the ancient civilization (6000 - 8000 years
ago).

• The science of heredity and variation, the scientific

principle of the science of genetics originated in 1900 with
the re-discovery of a scientific article published in 1866 by
Gregor Johann Mendel.

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• Gregor Johann Mendel (1865): Father of genetics and gave the concept of Factor (Unit
of hereditary).

• Friedrich Miescher (1869): Discovered Nucleic acid.

• Carl Currens, Hugo de varies, von Tschermark (1900): Rediscovered Mendelism

• Boveri & Sutton (1902): Factors/Genes are located on chromosome.

• Bateson (1906): Term genetics was proposed for the study of heredity. Term
Alleomorph/Allele was proposed

• Johannsen (1909): Term gene was proposed for Mendelian factor.

• Fredric Griffith (1928): Transformation experiment on Streptococcus pneumoniae

• Avery, MacLeod and McCarty (1944): DNA is genetic material (But not able to
proved)

• Hershey & Chase (1952): Proved DNA is genetic material

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 Some terminologies
• Allele / Allelomorph
• Homozygous
• Heterozygous
• Homozygous
 Mendel’s Work
• Gregor Johann Mendel, conducted hybridisation experiments on garden peas
(Pisum sativum L) for seven years (1856-1863) and proposed the laws of
inheritance in living organisms.

• During Mendel’s investigations into inheritance patterns it was for the first time
that statistical analysis and mathematical logic were applied to problems in
biology.

• Large sampling size, which gave greater credibility to the data that he collected.

• Also, the confirmation of his inferences from experiments on successive

generations of his test plants.

• Mendel investigated characters in the garden pea plant that were manifested as
two opposing traits (Contrasting characters), e.g., tall or dwarf plants, yellow
or green seeds.
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The following were the reason for the success of mendel.

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• Mendel conducted such artificial pollination/cross pollination experiments
using several true-breeding pea lines.

• A true-breeding line is one that, having undergone continuous self-

pollination, shows the stable trait inheritance and expression for several
generations.

• Mendel selected 14 true-breeding pea plant varieties, as pairs which were

similar except for one character with contrasting traits.

• The plants involved in the above crosses are called parent plants. It was
marked by P.

• The first Hybrid generation resulting from a cross between parental plants is
called first filial generation and is marked as F1.

• The second generation of hybrids arising from the self or cross fertilization of
F1 hybrid generation is called second filial generation and is marked as F2.
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Contrasting Traits Studied by Mendel in Garden Pea

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 Monohybrid Cross Experiments
• Single gene inheritance

• Hybridisation experiment - crossed tall

and dwarf pea plants to study the
inheritance of one gene.

• This generation is also called the Filial1

progeny or the F1.

• Mendel observed that all the F1

progeny plants were tall, like one of
its parents; none were dwarf (Figure).

• He made similar observations for the

other pairs of traits – he found that the
F1 always resembled either one of the
parents, and that the trait of the other FIG: Steps in making a cross in pea
parent was not seen in them. NKS, ANPPGI, ANAND 11
• Mendel then self-pollinated
(inbreed) the tall F1 plants and to
his surprise found that in the Filial 2
(F2) generation some of the offspring
were ‘dwarf ’; the character that was
not seen in the F1 generation was
now expressed.

• The proportion of plants that were

dwarf were 1/4th of the F2 plants
while 3/4th of the F2 plants were tall.
(Out of 1064 plants of F2 787 plants
were tall and 277 were dwarf). This
ratio is approximately 3:1

• The contrasting traits did not show

any blending at either F1 or F2
FIG: Diagrammatic representation of
stage.
monohybrid cross

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Qu. In animals, the inability to make the pigment melanin
results in albinism a recessive condition. Two unaffected
parents, who have decided to have three children, have a
first child that has albinism (genotype - aa). What is the
probability that the second and third children will also
albinism? (JNU-CEEB - 2018)
a. 1/4
b. 1/16
c. 1/2
d. 9/6
Based on the observation of monohybrid cross,
Mendel proposed two general rules:

1. Law of Dominance
2. Law of Segregation

Today these rules are called Principles or Laws

of inheritance

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 Laws of Dominance

• When two different alleles of a character occur

in an organism, only one of the two alleles
express itself.

• The other allele remains unexpressed.

• Examine results obtained from self-fertilization

among F1 individuals.

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 Figure: A Punnett square used to
understand a typical monohybrid
cross conducted by Mendel
between true-breeding tall plants
and true-breeding dwarf plants
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 Law of Segregation

• When a pair of contrasting traits are brought together in a

hybrid, the two allele remain together without mixing.

• When the gametes are formed from each other, only one
enters each gamete.

• Thus any gamete contains only one gene for an expression

of a character (also called Law of Purity of gametes).

• Gametes are always pure for a particular character.

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 Back Cross
Medal Devised Back Cross for the analysis of F1 genotype (homozygous or
heterozygous).

1. Out Cross

• When F1 individual is crossed with dominant parent.

• No analysis is possible in F1 generation….

2. Test Cross

• A cross, arranged for deciding whether an organism is homozygous or

heterozygous is called test cross. (Genotype of a plant can be
determined/tested).

• Two possibilities are there if we cross tall plant with dwarf plant depending on
the genotype of plant:
Figure: Test Cross

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Qu `. Which of the following crosses would produce a
1:1 ration of phenotype in the next generation (JNU-
CEEB - 2018)
a. AA X AA
b. Aa X Aa
c. AA X aa
d. Aa X aa
Qu. In a plant species, yellow seed color (Y) is completely
dominant over white (y). A genetic cross between plants with
yellow seeds and plants with white seeds yielded a progeny
population of 48 yellow seeded and 52 white seeded plants.
The genotype of the yellow seeded and white seeded parent
plants respectively are most likely to be (IIT-JAM (Bio) -
2019)
a. YY and yy
b. Yy and yy
c. Yy and Yy
d. YY and Yy
 Dihybrid Cross/Experiment
• Inheritance of two genes

• The crossing of two plants differing in two character is called dihybrid experiment.

• Mendel arranged experiments to follow simultaneous inheritance of two characters in pea

plants e.g. shape of seed and colour of seed.

• Selected pure-breeding line of yellow, round seed producing plant and another pure-
breeding line of green, wrinkled seed plant.

• These two plants were treated as parents and were crossed (Fig).

• Gene for round shape of seed ‘R’ is dominant over the gene for wrinkled shape of seed ‘r’.

• Gene for yellow colour of seed ‘Y’ is dominant over the gene for green colour of seed ‘y’.

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 Fig: Results of a dihybrid cross
where the two parents differed in
two pairs of contrasting traits:
seed colour and seed shape

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 Law of Independent assortment

• This law is based on dihybrid cross.

• During gamete formation of a dihybrid cross, the factor (genes) for

yellow colour assort out independently of the factor for round shape.
• The gene Y may combine with the dominant gene R or the
recessive gene r of the other character and enter a gamete.
• In the same way the gene y may combine with the dominant gene
R or the recessive gene r of the other character and enter a
gamete.

• So the F1 hybrid plants produce four types of gametes and they are
TR, Yr, yR and yr

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NKS, ANPPGI, ANAND 25
Post Mendelian Work
 GENE INTERACTION
• Gene interaction is of two types:

I. Allelic Interaction/Intragenic Interaction

II. Non-allelic Interaction/Intergenic Interaction

 I. Allelic Interaction/Intragenic Interaction

Incomplete Dominance
• When experiments on peas were repeated using other traits in other plants,
it was found that sometimes the F1 had a phenotype that did not resemble
either of the two parents and was in between the two.

• The inheritance of flower colour in the Mirabilis jalapa (4 O’clock plant),

Antirrhinum sp. (dog flower or snapdragon) is a good example to
understand incomplete dominance.

• In a cross between true-breeding red-flowered (RR) and true breeding

white-flowered plants (WW), the F1 (RW) was pink (Figure)

• Similar examples also occur in animal.

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NKS, ANPPGI, ANAND 29
 Co-dominance
• Till now we were discussing crosses where the F1 resembled either of the two
parents (dominance) or was in-between (incomplete dominance).

• But, in the case of co-dominance the F1 generation resembles both parents.

• In co-dominance, both dominant and recessive alleles lack their dominant and
recessive relationship and both the genes express their expression independently.

• Dominant character is not mixed with recessive character.

• In short horn cattle, there are two pure verities, red and white coat colour. (ABO
blood grouping in human is also one of the example).

• Cross between these two verities (RR × rr) leads to the formation of a new verities
(Rr) with reddish grey colour coat.

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NKS, ANPPGI, ANAND 31
ABO Blood Group Inheritance…….
Carrier of Sickle cell anemia (HbAHbS)…….
 Multiple alleles
• Cases are observed where there are more than two optional forms of a gene
for one character.

• Thus three or more alleles are responsible for a single characteristic, they are
known as multiple alleles.

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Pleiotropism

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II. Non-allelic Interaction/Intergenic
Interaction

Variation in
9:3:3:1
Ratio
Gene Interaction is the main reason:
Gene Interaction:- More than one gene action capable of
influencing the expression of single phenotype can be described
as gene interaction.

Following types of gene can be involved in the phenomenon

of gene interaction.

1. Complementary Gene
2. Inhibitory Gene
3. Epistatic Gene
4. Duplicate Gene
5. Additive Gene

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1. Complementary Gene

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2. Inhibitory Gene

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3. Epistatsis Gene

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4. Duplicate Gene
5. Additive Gene

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­Qu. A di-hybrid phenotypic ratio of 15:1 was
obtained while making a cross of AaBb X
AaBb. This is an example of (IIT-JAM (Bio) -
2018)
a. Cytoplasmic inheritance
b. Incomplete dominance
c. Duplicate gene
d. All of the above
 Polygenic Inheritance
• Inheritance of characters in which one character is
controlled by many genes and intensity of
character depends upon the number of dominant
allele.

• Described by:
- Nilsson and Ehle in kernal color of wheat and
- Devenport in skin color of human.
Complementation
• In genetics, complementation occurs when two strains of an organism with
different homozygous recessive mutations (that produce the same
mutant phenotype) produce offspring with the wild-type phenotype when
mated or crossed.

• Complementation will occur only if the mutations are in different genes.

• Since the mutations are recessive, the offspring will display the wild-type
phenotype.
Chromosomal Basis of
Inheritance
• Mendel’s fact were first pointed out in 1902 by Sutton & Boveri.

• They put forward the theory that chromosomes form the physical basis of
factor or genes which determine the heredity of living organisms.

• This is known as the “Chromosomal theory of heredity”.

• Sutton demonstrated the similarities in the behaviour of chromosomes

located within nucleus and the behaviours of Mendel’s hypothetical
‘factor’.

• E.g. genes (= factors) occur in pairs. Chromosomes also occur in pairs.

• Mendel’s law of independent assortment can also be explained on

chromosomal basis.
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• Boveri and Sutton found that each species have a fixed number of
chromosome.

• Genes (factors) are located on chromosome in various numbers of each

chromosome.

• Chromosome as well as genes occur in pairs.

• Two alleles of a gene pair are located at homologous sites on homologous

chromosomes.

• Sutton united the knowledge of chromosomal segregation with Mendelian

principles and called the chromosomal theory of inheritance.

• It was also verified by Thomas Hunt Morgan on fruit fly (Drosophila

melanogaster)….they suggested that genes are arranged in a linear fashion
on chromosomes.
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Linkage and Recombination
In
Genetics
• But, Sutton (1903) & T.H. Morgan in (1911) found that genes don't assort
freely as predicted by Mendel.

• Bateson and Punnet in their study on the same pea plant found that when
they crossed red flowers and spherical pollen plant with a plant having
purple flowers and cylindrical pollen, the test cross yielded a ratio of 7:1:1:7
instead of the expected 1:1:1:1 ratio.

• Hence Mendel’s law of independent assortment is not true in all cases.

• If two pairs of genes are controlling two different characters are located in
the same pair of homologous chromosome, they cannot be segregated
separately.

• Such genes are called linked genes and their inheritance is called
Linkage.
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 Linkage in Sweet Pea Plant
• First experimental evidence of linkage were performed by Bateson & Punnet
on sweet pea plant (Lathyrus odoratus).
• Purple flower colour (P) is dominant over red flower colour (p).
• Long shape of pollen grain (L) is dominant over round shape of pollen (l).

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