Principles of Heredity and Mendelian Genetics2

MENDELIAN GENETICS
Heredity
Earlier Theory of Pangenesis was believed that was proposed by

Hippocrates (460-300 B.C.)
Acc. to this theory each part of the body produces semen or seed that
somehow travels to the reproductive organs
However, Aristotle criticized this theory & said “the loss of an arm or
a foot by one parent does not result in a similar deformity in the
offspring”
Still this theory had supporters till 19th century
Even Darwin believed to some extent

According to him every part of the adult body produces gemmules,
tiny particles of hereditary information & then transformed as male
semen
It was left to Wiesmann (1880) who proposed Germplasm theory
Acc. to this theory only hereditary information in the germ-plasm of

the gametes transmit traits to the progeny, sometimes cells do not make a
contribution
He emphasized special nature of germ cells, namely, eggs & sperm
Wiesmann disproved pangenesis theory by carrying out an experiment
wherein he cuts tails of mice every year for several generations up to
7year period.
The offspring after 23rd generation were not tailless but with tails
But Wiesmann has a folly which he believed that when male & female
mate, the characters of both blend e.g., when a black dog mates white
dog only, brown or gray puppies are born
But it does not happen in most of the cases

Gregory Mendel
He was an Austrian Monk.
During leisure period he did lot of experiments with Garden Pea plant
and other plants
Mendelian Genetics: Mendel looked upon a single character as a unit

& followed its inheritance.
He followed inheritance of pairs of contrasting characters (e.g. Tall &

dwarf) from generation to generation through pedigree methods
He also ascertained ratios of distinct forms in each generation
Hence he followed statistical approach which enabled him to offer a

scientific explanation of results
Mendel studied with one character (monohybrid cross) & two
characters (dihybrid cross)
He proposed certain laws including
(i) law of dominance,
(ii) law of segregation of characters, &
(ii) law of independent assortment of characters

MONOHYBRID CROSS
Mendel carried out experiments with Garden pea plant by crossing a
tall plant with a dwarf plant.
He found the offsprings in the ratio of 3:1
This is known as Monohybrid cross
Out of 3 tall plants produced only one produced homozygous tall &
the remaining two were heterozygous tall.
Since morphologically all were similar i.e. they are known as
phenotypes
Tall is a dominant character; Dwarf – recessive character
T t
TT Tt
T
Tt tt
t
Homozygous: An individual with a factor that has pure gametes for
that character is said to be homozygous (TT or tt are homozygous)
Heterozygous: an individual whose constitution factors for both the

contrasting characters occur together is said to be heterozygous (Tt are
heterozygous)
Allemorphs or alleles: There are more than a pair of contrasting

characters & such variations of any particular factor are known as alleles
e.g. (i) if height is the character then tall & dwarf are its alleles;
(ii) if color is the character of the seed coat then green or yellow color of
seed coat are its alleles;
Phenotype: Tall plants outwardly are tall irrespective of their genetic
constitution i.e. both TT & Tt are tall.
Such outward appearance is known as phenotype
Genotype: At the time of reproduction it will be known that TT gives

rise only to tall, the Tt produces tall & dwarf.
Since their hereditary constitution is different they are known as

genotypes.
The following laws of heredity have been proposed by Gregory
Mendel
(i) The Law of Segregation of Characters
The determiners or factors (genes) for each character maintain their

identity in the body at the time of gamete or (spore) formation
separate, so that the gamete comes to have a single factor only i.e.
gamete is pure for a character, while a zygote may or may not be
(purity of gametes)
(ii) Law of Independent Assortment of Characters
 Characters of an individual are passed on to the gamete, independent

of one another, since each gamete can carry only one factor of a pair
 The random mating of gametes gives rise to zygotes possessing

combinations of characters that were not originally met with e.g.
yellow & wrinkled or green round seeds
 The concept of recombination of characters might have developed

from this law
DIHYBRID CROSS
Mendel then studied with characters namely color of the cotyledons &
structure of seed coats.
The cotyledons were yellow (dominant) or green (recessive) in color & seed
coats were round (dominant) or wrinkled (recessive) in shape
Yellow is designated as Y and its recessive trait green as small ‘y’, Similarly
Round is designated as ‘R’ and its recessive trait as ‘r’
RRYY is true hereditary constitution for Round & Yellow characters,

similarly
rryy is true hereditary constitution of wrinkled & green characters
Plants having these contrasting characters were allowed to cross
In the hybrid of first generation, all plants produced seeds that had yellow
cotyledons & round seeds
However, when F1 were self fertilized variation came in 9:3:3:1 ratio
The F2 generation produced
315 Yellow-cotyledoned & round-coated seeds;
101 yellow- cotyledoned & wrinkled coated seeds;
108 green-cotyledoned & round-coated seeds &
32 green-cotyledoned & wrinkled-coated seeds
In the ratio of 9:3:3:1

Mendel also realized that the double cross is almost similar to
monohybrid cross when characters were seen individually.
Thus, when he counted only cotyledon color, his count showed 416
yellow & 140 greens (3:1 ratio). Similarly
When he counted only the shape of the seed coat he could get 423
round & 133 wrinkled seeds (3:1 ratio). As per (a + b)2 or (3 + 1)2
formula it gives 9 : 3 : 3 : 1
Modifications of 3:1 ratio
Incomplete dominance
Dominant – recessive relationship is not universal
Often hybrids exhibit traits intermediate between the parental traits
This shows that either there is no dominance or incomplete dominance
The ratio will be 1:2:1 & not 3:1 dominance even phenotypically in F1
generation e.g. Mirabilis flowers
In Mirabilis some bear red flowers; some white. The true breeds are
selected & crossed
Hybrids bear flowers pink, an intermediate color, in addition to red &
white. This shows an incomplete dominance
When pink were self fertilized it produced 1 : 2 : 1 (red : pink : white)
flowers
Modifications of Dihybrid Ratio
 Similar to monohybrid cross variation occurs in dihybrid cross also
 Usually 4 types of phenotypes are produced in the ratio of 9 : 3 : 3 : 1
 However modifications to this ratio occur.
 These modifications are of two types. They are:
(i) Those in which more than four phenotypes result &
(ii) Those in which less than four phenotypes occur

EPISTASIS (Inhibitory genes)
When one influences expression of another the first gene is epistatic

over the second.
Such genes are known as inhibitory genes as they inhibit expression of

other genes.
In mice a gene for Albino in homozygous condition prevents

development of coat color even if genes are present
Hence Albino is epistatic to genes that cause two-coat colorations in

mice: Agouti & Black
Agouti is coat color among wild mice (grayish with black hair having
yellow bands at the tips)
Some mice are black as their fur is solid black throughout with no
yellow bands at the tips
Others are white that possess albino gene in a homozygous condition
Albino gene inhibits expression of any color.

Black color is due to gene ‘C’ & Agouti due to gene ‘A’ & albinos ‘c’
Black is recessive to Agouti
When black mouse is cross fertilized with an Albino, the F1 offspring

are all Agouti
When they are inbred 9 Agouti, 3 Black & 4 Albino mice appear in the
next generation
Though the gene for Agouti is present in some, whether it be in

homozygous or heterozygous condition, the color has not been expressed
because Albino is epistatic to Agouti.
TEST CROSS (= BACK CROSS)
To find out whether a plant is homozygous or heterozygous, a member

of the F1 generation (produced as a result of crossing between two
parents who have the character pair under study, showing the simple
dominant recessive relationship) is crossed with a recessive parent
If F1 individuals are homozygous all plants would be tall
If F1 individuals are heterozygous then 1 : 1 ratio is achieved
The same happens when two pairs of characters are involved in a test
cross: four phenotypes will appear in equal proportions 1 : 1 : 1 : 1
This method of knowing homozygosity or heterozygosity of the plant

by crossing with a recessive plant is known as test cross or back cross
TEST CROSS
Linkage & Crossing over
Law of independent assortment does not hold good in all the cases
Bateson & Punnet (1906) found in Sweet potato two pairs of alleles
that did not follow law of independent assortment
When two characters A and B came together from same parent tended
to be inherited together (coupling)
But when they came from two different parents they tended to remain
apart (repulsion)
Morgan (1910) found these two aspects to be same phenomenon

known as Linkage
Morgan felt that two genes responsible for two different characters
could be on the same chromosome with less chance to separate (linkage)
According to him, the strength of linkage lies in the degree to which

two genes stay together or get separated depended on distance by which
they spaced out on the chromosome in which they are situated
When two genes are closer, chances of their separation is less during
crossing over that occurs during prophase of meiosis
The linkage of such genes would be strong & hence have coupling
Lethal factors
Some recessive factors in homozygous condition that are fatal to

individuals are known as Lethal factors
Since recessive factors are lethal they could cause death & hence could
disturb the usual 3:1 monohybrid ratio
However, in heterozygous condition, the evil effects of lethal factors
are nullified because the other allele along with which it occurs is a
dominant character

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MENDELIAN GENETICS

Earlier Theory of Pangenesis was believed that was proposed by

Still this theory had supporters till 19th century

Even Darwin believed to some extent

It was left to Wiesmann (1880) who proposed Germplasm theory

Acc. to this theory only hereditary information in the germ-plasm of

But it does not happen in most of the cases

He was an Austrian Monk.

Mendelian Genetics: Mendel looked upon a single character as a unit

He followed inheritance of pairs of contrasting characters (e.g. Tall &

He also ascertained ratios of distinct forms in each generation

Hence he followed statistical approach which enabled him to offer a

He proposed certain laws including

(i) law of dominance,

(ii) law of segregation of characters, &

(ii) law of independent assortment of characters

This is known as Monohybrid cross

Heterozygous: an individual whose constitution factors for both the

Allemorphs or alleles: There are more than a pair of contrasting

Such outward appearance is known as phenotype

Genotype: At the time of reproduction it will be known that TT gives

Since their hereditary constitution is different they are known as

(i) The Law of Segregation of Characters

The determiners or factors (genes) for each character maintain their

 Characters of an individual are passed on to the gamete, independent

 The random mating of gametes gives rise to zygotes possessing

 The concept of recombination of characters might have developed

Round is designated as ‘R’ and its recessive trait as ‘r’

RRYY is true hereditary constitution for Round & Yellow characters,

Plants having these contrasting characters were allowed to cross

101 yellow- cotyledoned & wrinkled coated seeds;

108 green-cotyledoned & round-coated seeds &

32 green-cotyledoned & wrinkled-coated seeds

In the ratio of 9:3:3:1

Often hybrids exhibit traits intermediate between the parental traits

This shows that either there is no dominance or incomplete dominance

 Similar to monohybrid cross variation occurs in dihybrid cross also

 Usually 4 types of phenotypes are produced in the ratio of 9 : 3 : 3 : 1

 However modifications to this ratio occur.

 These modifications are of two types. They are:

(i) Those in which more than four phenotypes result &

(ii) Those in which less than four phenotypes occur

When one influences expression of another the first gene is epistatic

Such genes are known as inhibitory genes as they inhibit expression of

In mice a gene for Albino in homozygous condition prevents

Hence Albino is epistatic to genes that cause two-coat colorations in

Others are white that possess albino gene in a homozygous condition

Albino gene inhibits expression of any color.

Black is recessive to Agouti

When black mouse is cross fertilized with an Albino, the F1 offspring

Though the gene for Agouti is present in some, whether it be in

To find out whether a plant is homozygous or heterozygous, a member

If F1 individuals are homozygous all plants would be tall

If F1 individuals are heterozygous then 1 : 1 ratio is achieved

This method of knowing homozygosity or heterozygosity of the plant

Morgan (1910) found these two aspects to be same phenomenon

According to him, the strength of linkage lies in the degree to which

Some recessive factors in homozygous condition that are fatal to

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