Heredity is the transfer of character from parents to their of f springs.

These hereditary characters are present

on the chromosomes in the form of genes. These gene combinations express characters which may be more
similar to one of its two parents. The differences in characters of off spring mainly depend upon unique
process of crossing over that occurs during meiosis. This is one of the main reasons of producing
recombinations.

Gregor Johann Mendel was born in 1822 in Heinzendorf , which was a part of Czechoslovakia. He began his
genetic experiments on garden pea in 1856 in the garden at the monastery.

Selection of pea plant: The main reasons f or adopting garden pea (Pisum sativum) for experiments by
Mendel were –

1. Pea plants are self-pollinating.

2. They are easy to cultivate. Mendel could observe inheritance patterns in up to two generations a year,
because peas are cold season annual crops that can grow quickly.

3. They have sharply defined characters.

4. They are predominantly self-pollinated, which means different true breeding lines are easy to develop.

5. Easily grown in large numbers, occupy small space.

Working method: Mendel’s success was also due to his meticulous planning and method of work –

He studied only one character at a time. He used all available techniques to avoid cross pollination by
undesirable pollen grains. He applied mathematics and statistics to analyse the results obtained by him.

Mendel usually carried out his breeding experiments in three stages :

1. Obtaining Pure-lines: He allowed pea plants of a given variety (say tall plants) to produce progeny
by self pollination for several generations. Plants produce similar progeny for a particular character
are called pure-lines or true breeding or pure breeding for that particular character.

2. Hybridization: Mendel performed crosses between two varieties of plants showing contrasting or
alternative forms of characters such as tall plant and dwarf plant. After pollination, all the flowers of
the female plants were covered to prevent unwanted cross-pollination. Then he repeated his
experiment by reciprocal cross where he used the pollen contributing plant as female and the other
plant as male. For example, in the first case he used tall plant as male and dwarf plant as female and
then in the reciprocal cross he used tall plant as female and dwarf as male. In both the crosses, he
obtained the same results. The offspring and seeds of such crosses (hybridizations) constituted the
first filial generation or F1-generation.

3. Selfing: In final stage, he allowed the hybrids of F1-generation to self pollinate. The offsprings and
seeds produced from the F1-generations constituted the second filial generation or F2-generation.
The original plants used in the hybridization were denoted as P1 and P2.

Mendel’s Findings :

The alternative forms of characters studied by Mendel had only two variants those were easy to identify and
score. Only one pair of alternative characters is taken into consideration is known as monohybrid cross. In
another set of experiment, he considered the inheritance pattern of two pairs of contrasting characters.
Where two pairs of alternative characters taken into consideration is known as dihybrid cross.
Monohybrid cross :

When Mendel crossed a true breeding tall plant with the dwarf plant the F1-plants were all tall. Then, he
subjected the F1-tall plants to self pollination and in the F2-generation, the tall and dwarf plants appeared in
the ratio of almost 3:1. Then individual plants of F2-generation were self pollinated and F3-generation was
raised. In F3, all the dwarf plants produced only dwarf plants; the dwarf plants were thus true breeding. Out
of the tall plants two third tall plants produced tall and dwarf plants in the ratio of 3:1. Hence, two third tall
plants were not true breeding. The rest one third tall plants of F2 produced only tall plants; which means that
they were true breeding. The same results were obtained in reciprocal crosses and also with all the seven
pairs of alternative forms of characters.

Explanation: Mendel’s monohybrid cross suggested that, the character which appeared or expressed in the
F1-generation (Tall) is called dominant and the character which was masked or suppressed (dwarf) is called
recessive.

InF2-generation the dominant and recessive (Tall and Dwarf ) appeared in the ratio of 3:1. F2 ratio of 3:1 is
actually 1:2:1 as one third of the total population of F2 are pure tall, two third are hybrid tall like that of F1
and rest one third are dwarf.

According to Mendel a character is inherited by factors. Thus a diploid organism contains a pair of factors
for a character. Offsprings containing two similar factors for a character tall ‘TT’are called homozygous.
The hybrid tall is “Tt” and is called heterozygous tall.

The morphological expression of a character is called phenotype and the internal factors responsible for
such expression is called genotype.

A tall phenotype can have TT or Tt genotypes. The dwarf phenotypes have (tt) genotype only.

The two Mendelian factors which determine the character of diploid organism can be called as alleles.

Homozygous tall plant carries two similar alleles (TT) and heterozygous tall plant carries two different
alleles (Tt).

Basing on the observations of Mendel, the German scientist Carl Correns formulated certain principles of
heredity.

These, now known as Mendel’s Laws of Inheritance, are as follows:

1. Principle of dominance.

2. Principle of segregation or purity of gametes.

3. Principle of independent assortment.

last law is based on dihybrid crosses.

Principle of dominance :

When two homozygous parents for two contrasting characters are crossed a hybrid results in F1-generation.

This having a copy each of both types of alleles, only one is able to express its phenotypic effect.

This is known as the dominant factor or dominant allele. The other factor or allele whose effect is
completely masked or suppressed is known as recessive factor or allele.

The phenotypic effect of recessive allele is seen when occur in homozygous form.

Thus characters pass from parents to offspring in particulate forms as factors without mixing or
amalgamation.

5.2.3.2 Principle of segregation :

In any diploid organism the two factors of a given character remain together without mixing and keeping
their identity distinct.

At the time of gamete formation, the two factors or alleles segregate and a gamete receives only one of the
two factors of any character randomly.

As the gamete receives only one allele of a character, the gamete is said to be pure so it is also known as
purity of gamete.

Dihybrid cross :

A cross where two pairs of alternative characters are considered for study is known as dihybrid cross.

Two traits or characters such as shape of the seed and colur of the seed can be considered together.

In these two pairs of alternative characters round seed(R) is dominant over wrinkled seed(r) and yellow
seed(Y) is dominant over green(y).

Thus true breeding plants having round and yellow seed(both dominant) was crossed with plant having
yellow and wrinkled seed (both recessive).

In this dihybrid cross the F1 plants were all having round and yellow seeds.

Then after selfing in F2 generation parental as well as different combinations appeared in the following
ratios:

Plants with round yellow seeds – 9

Plants with round green seeds – 3

Plants with wrinkled yellow seeds – 3

Plants with wrinkled green seeds – 1

The phenotypic ratio of the dihybrid cross is 9:3:3:1

Explanation: Taking the genes or factors as the bases of characters or traits and assigning each factor a
symbol the dihybrid cross can be explained by chequer board or Punnet square as below :

In this dihybrid cross four types of plants appeared in the F2 generation which is two more than the parental
types. The genotypic ratio can be grouped into four categories considering the principle of dominance as
follows:

R-Y - group - 9 Round Yellow phenotypes

rr -Y – group - 3 Wrinkled Yellow phenotypes

R –yy – group - 3 Round Green phenotypes

rr-yy – group - 1 Wrinkled Green phenotypes

The factor or allele for round (R) seed is dominant over wrinkled (r) seed. Similarly, Yellow colour (Y) is
dominant over green colour (y).

In the F2 generation of the dihybrid cross, each pair of dominant and recessive factors are inherited
independently as if the other pair does not exist at all.

This can be verified from the following example :

Number of plants with seeds having yellow colour = 9+3=12

Number of plants wth seeds having green colour = 3+1 =4

F2 ratio of Yellow : green is 12:4 or 3:1

number of plants with round seeds = 12

Number of plants with wrinkled seeds = 4

F2 ratio of Round : wrinkled seeds = 12:4 or 3:1

Though the factors for both the characters are present together, their inheritance ratio is the same as the
monohybrid cross. This proves that characters are inherited independent of each other.
Principle of independent assortment :

Law of independent assortment states that in a cross between parents with two or more contrasting
characters, the inheritance or one pair of contrasting character is independent of the other pair of such
characters.

The two characters are transmitted independently.

So two factors for seed colour (Y and y) and the two factors for shape of the seed (R and r) present together
in the F1 hybrid assort independently and randomly during gamete formation so that a gamete contains only
one of the two factors of a character.

As a result, four types of gametes are formed, RY, Ry, rY and ry.

These four types of gametes unite randomly as per probability to give rise to four types of F2 offspring.

Back Cross :

Back cross is a cross between the F1 hybrid with any one of the homozygous parents.

When F1 hybrid is crossed with the homozygous dominant parent then all the offspring will be with
dominant phenotype.

When F1 hybrid is crossed with recessive parent, both dominant and recessive phenotypes appear in equal
proportion.

Test Cross :

This cross is actually a back cross employed to know the genotype of the dominant phenotype.

A dominant phenotype can be a homozygous dominant (TT) or heterozygous dominant (Tt).

After crossing if the F2 gives all dominant phenotypes then the test plant is a homozygous dominant.

If the F2 gives equal proportion of dominant and recessive phenotypes then the test plant is a heterozygous
dominant.

The test cross can also be employed for a dihybrid cross to know an unknown genotype.
DEVIATIONS FROM MENDALISM :

Subsequently, it discovered that such a simple dominant-recessive relationship was not always true. Some
case studies revealed intermediate phenotypes in the heterozygotes and some heterozygotes even had the
equal expression of both the alleles.

These findings laid to establish the concepts of incomplete dominance and codominance respectively.

Further it was observed that one character might be controlled by more than one gene (polygenic
inheritance) and one gene might control more than one characters(Pleiotropic effect).

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 dog flower (snapdragon or Antirrhinum sp.) is a good example to
understand incomplete dominance. In a cross between true-breeding red-flowered (RR) and true breeding
white-flowered plants (rr), the F1 (Rr) was pink. When the F1 was self-pollinated the F2 resulted in the
following ratio 1 (RR) Red: 2 (Rr) Pink : 1 (rr) White. Here the genotype ratios were exactly as we would
expect in any mendelian monohybrid cross, but the phenotype ratios had changed from the 3:1 dominant :
recessive ratio. What happened was that R was not completely dominant over r and this made it possible to
distinguish Rr as pink from RR (red) and rr (white) .

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. A good example is different types of red blood cells that determine ABO blood grouping in human
beings. ABO blood groups are controlled by the gene I. The plasma membrane of the red blood cells has
sugar polymers that protrude from its surface and the kind of sugar is controlled by the gene. The gene (I )
has three alleles IA, IB and i. The alleles IA and IB produce a slightly different form of the sugar while
allele i doesn’t produce any sugar. Because humans are diploid organisms, each person possesses any two of
the three I gene alleles. IA and IB are completely dominant over i, in other words when IA and i are present
only IA expresses (because i does not produce any sugar), and when IB and i are present IB expresses. But
when IA and IB are present together they both express their own types of sugars: this is because of co-
dominance. Hence red blood cells have both A and B types of sugars. Since there are three different alleles,
there are six different combinations of these three alleles that are possible a total of six different genotypes
of the human ABO blood types. How many phenotypes are possible?

Multiple Alleles

Alleles are alternative forms of a gene, and they are responsible for differences in phenotypic expression of a
given trait (e.g., brown eyes versus green eyes). A gene for which at least two alleles exist is said to be
polymorphic. Instances in which a particular gene may exist in three or more allelic forms are known as
multiple allele conditions. It is important to note that while multiple alleles occur and are maintained within
a population, any individual possesses only two such alleles (at
equivalent loci on homologouschromosomes).

Examples of Multiple Alleles

Two human examples of multiple-allele genes are the gene of the ABO blood group system, and the human-
leukocyte-associated antigen (HLA) genes.

The ABO system in humans is controlled by three alleles, usually referred to as IA, IB, and IO (the "I" stands
for isohaemagglutinin). IA and IB are codominant and produce type A and type B antigens, respectively,
which migrate to the surface of red blood cells, while IO is the recessive allele and produces no antigen.
The blood groups arising from the different possible genotypes are summarized in the following table.

Genotype Blood Group

IA IA A

IA IO A

IB IB B

IB IO B

IA IB AB

IO IO O
HLA genes code for protein antigens that are expressed in most human cell types and play an important role
in immune responses. These antigens are also the main class of molecule responsible for organ rejections
following transplantations—thus their alternative name: major histocompatibility complex (MHC) genes.

The most striking feature of HLA genes is their high degree of polymorphism —there may be as many as
one hundred different alleles at a single locus. If one also considers that an individual possesses five or more
HLA loci, it becomes clear why donor-recipient matches for organ transplantations are so rare (the
fewer HLA antigens the donor and recipient have in common, the greater the chance of rejection).

Pleiotropy

When we mentioned Mendel’s experiments with purple-flowered and white-flowered plants, we didn’t
discuss any other phenotypes associated with the two flower colors. However, Mendel noticed that the
flower colors were always correlated with two other features: the color of the seed coat (covering of the
seed) and the color of the axils (junctions where the leaves met the stem).

In plants with white flowers, the seed coats and axils were colorless. In plants with purple flowers, on the
other hand, the seed coats were brown-gray and the axils were reddish. Thus, rather than affecting just one
characteristic, the flower color gene actually affected three.

Genes like this, which control multiple, seemingly unrelated features, are said to be pleiotropic (pleio- =
many, -tropic = effects. We now know that Mendel’s flower color gene specifies a protein that causes
colored particles, or pigments, to be made. This protein works in several different parts of the pea plant
(flowers, seed coat, and leaf axils). In this way, the seemingly unrelated phenotypes can be traced back to a
defect in one gene with several jobs.

Polygenic inheritance

Human features like height, eye color, and hair color come in lots of slightly different forms because they
are controlled by many genes, each of which contributes some amount to the overall phenotype. For
example, there are two major eye color genes, but at least 14 other genes that play roles in determining a
person’s exact eye color

there are three genes that make reddish pigment in wheat kernels, which we’ll call A, B, and C. Each comes
in two alleles, one of which makes pigment (the capital-letter allele) and one of which does not (the
lowercase allele). These alleles have additive effects: the aa genotype would contribute no pigment,
the Aa genotype would contribute some amount of pigment, and the AA genotype would contribute more
pigment (twice as much as Aa). The same would hold true for the B and C genes.