Introduction to Genetics

The principle of gene transfer from generation to generation is basic to sustaining life on earth. This is very
important as all organisms inherit a structural and functional organization from their progenitors. Genetics
or heredity is the study of two contradictory aspects of nature: heredity and variation. Inheritance or heredity
is referred to as the process of transmission of characters from one generation to the next, either by means
of gametes (ova and sperms) in sexual reproduction or by the asexual reproductive bodies in asexual
reproduction. In various organisms, heredity causes the similarities between individuals. This explains
better the reason why brothers and sisters of the same parents resemble each other and with their parents.
On the other hand, variation is the cause of differences between individuals. This equally explains better
the reason brothers and sisters who do resemble each other are still unique individuals. For instance, even
“identical” twins are recognized as distinctive individuals by their parents and close friends. What is
transmitted from parents to offspring is a functioning cell (zygote) containing a set of coded instructions
that it uses to guide its cell divisions, growth, and development to construct a body resembling those of its
parents. These instructions are in the form of genes, the fundamental units of inheritance. Genetics as a
branch of science attempts to explain the mechanism and basis for both similarities and differences between
related individuals. It equally attempts to explain the phenomenon of evolution and cytodifferentiation.
Heredity and variation plays a significant role in the formation of new species (speciation). In biological
science, genetics deals with the mechanism of heredity and causes of variations in living organisms (viruses,
bacteria, plants and animals). The word genetics is derived from the Greek root gen which means to become
or to grow into and it was coined by Batson in 1906 for the study of physiology of heredity and variations.
A great triumph of modern biology was the discovery in 1953 by James Watson and Francis Crick of the
nature of the coded instructions in genes. The genetic material (deoxyribonucleic acid, DNA) is composed
of nitrogenous bases arranged on a chemical chain of sugar-phosphate units. The genetic code lies in the
linear order or sequence of bases in the DNA strand. Because DNA molecules replicate and pass from
generation to generation, genetic variations can persist and spread in a population. Molecular alterations,
called mutations, are the ultimate source of biological variation and the raw material of evolution.
Historical background of genetics
The science of genetics is a very young science compared to other areas of biological sciences, and its origin
can be traced in the work of Gregor Mendel in the 19th century. But before Mendel’s work men had some
vague knowledge about genetics and more often have tried to explain the causes of heredity. About six
thousand years ago men kept pedigree of domestic animals such as horse and food plants as rice. The
theories which have been forwarded from time to time to explain the phenomenon of inheritance can be
categorized under the following headings:
1. Vapour and fluid theories
2. Preformation theories
3. Particulate theories
Vapour and Fluid Theories
Under the vapour and fluid theories, three early Greek philosophers such as Pythagoras (500 B.C.),
Hippocrates (400 B.C.) and Aristotle (350 B.C.) made remarkable findings. Pythagoras proposed that every
organ of animal body gives out some type of vapours. These vapours unite and form a new individual.
Hippocrates believed that reproductive material is handed over from all parts of the body of an individual,
so that the characters are directly handed over to the progeny. Furthermore, Aristotle thought that the semen
of man has some vitalizing effect and he considered it as the highly purified blood. According to him, the
mother furnishes inert matter and the father gives the motion to the new life.
Preformation Theories
A good number of scientist made some findings under this theory. Leonardo da Vinci (1452-1519)
proposed that the male and female parents contribute equally to the heredity of the offspring. W. Harvey
(1578-1657) speculated that all animals arise from egg and that semen only initialize the role. R. de Graaf
(1641-1673) observed that the progeny would have characteristics of father as well as of mother and
therefore, he proposed that both the parent contributed to the heredity of progeny. Malphigi (1673), the
pioneer of preformationist school, concluded that development of any organism consisted simply of growth
of performed parts. A.V Leeuwenhoek in 1677 observed sperms of man, dog, rabbit, and other mammals,
frogs, fishes and insects, and also suggested their association with eggs. In 1679, J. Swanmerdam studied
development of insects and frog and suggested that development of an organism is a simple enlargement
of a minute but preformed individual. The figure of homunculus or manikin, the miniature man in the sperm
head was published by Hartsoeker. The preformation theories is hinged on the concept of the presence of
preformed embryo in the sex cells. Preformationists have, often, been divided into two schools:
a. Ovists who attracted more importance to ova; they thought that “homunculus” was present in the ovum.
b. Animalculists or spermatists who attracts more importance to sperm; they thought that a miniature but
complete organism was present in the sperm.
N. Grew in 1682 reported for the first time the reproductive parts of plants. R. Camerarius in 1694 described
sexual reproduction in plants for the first time. He is also known to be first to produce a hybrid between
two different plant species. In 1717, Fairchild produced a hybrid having characteristics of both parents.
This hybrid was called “Fairchild’s Sweet William” or as “Fairchild’s mule”. This provides a means of
artificial hybridization in plants. K.F. Wolff (1738-1794) finally refuted the preformation theory to
proposing that neither egg nor sperm had a structure like homunculus but that the gametes contained
undifferentiated living substances capable of forming the organized body after fertilization. This idea
formed the very core of the theory of epigenesist. This theory suggested that many new organs and tissues
which were originally absent, develop subsequently. However, Wolff believed that these tissues and organ
developed de novo due to mysterious vital forces.
Particulate Theories
The French biologist Maupertuis (1689-1759) proposed the concept of biparental inheritance by elementary
particles. He proposed that the body of each parent gives rise to minute particles. In sexual reproduction,
particles of both individuals unite together to form new individual. He thought that in certain cases the
particles of the male parent might dominate on those of the female parent and produce a male individual
while in the production of female individual, the particles of female might dominate on particles of the male
parent.
The great biologist Lamarck (1744-1829) in 1809 proposed the phenomenon of “inheritance of acquired
characters” among living organism. But he failed to provide convincing evidences in support of his concept.
In 1868 the well-known naturalist Charles Darwin has given his famous theory of pangenesis which
exclusively depends on the particulate theory. The central idea of pangenesis has been given first all by
Hippocrates. According to the pangenesis theory of Darwin each part of the animal body produces many
minute particles known as gemmules. These gemmules were at first collected in the blood and later on were
concentrated in the reproductive organ.
The theory of pangenesis was disapproved by Galton (1823-1911) and Weismann (1835-1934). Weismann
in 1892 postulated the theory of germplasm to explain heredity. According to this theory the body of
organisms contain two types of cell namely somatic cells and reproductive cells. The somatic cells form
the body and its various organ systems, while the reproductive cells form sperm and ova. The somatic cells
contain the somatoplasm and germinal or reproductive cells contain the germplasm. According to
Weismann the germplasm can form somatoplasm but somatoplasm cannot form germplasm. Thus, the
changes in the structure of somatic cells or somatoplasm which are caused by the environment (acquired
characters) cannot influence the reproductive cells or germplasm. By cutting the tails of mice for many
generations, Weismann always got tailed mice. So, by such experimental evidences he rejected the
Lamarckism and Pangenesis theory.
The particulate theory formed the central core of the modern understanding of genetics. Though it faced
many problems in its beginning.
Augustinian Monk, Gregor Mendel was the first investigator who laid the foundation of our modern concept
of the particulate theory. He understood the problems associated with heredity more clearly than anyone in
the past, because his approach was simple, logical and scientific. By his famous experiments on pea plant
he concluded that the inheritance is governed by certain factors which occur in the cell of each parent. He
thought that each parent has two factors, while their sex cells (sperm or pollen and egg or ovum) have only
one factor. However, he failed to explain the exact process by which these factors pass on the sex cells.
Knight (1799) and Goss (1824) conducted hybridization experiments on edible pea (Pisum sativum), but
they failed to formulate any law of inheritance like the Mendel.
During 19th century and dawn of 20th century, the science of genetics have received solid support from
landmark investigations in the field of cytology, embryology, biochemistry, and genetics. Von Baer (1828)
made discovery of the mammalian egg. Pringsheim (1855) first saw nuclear fusion in green algae
(Vaucheria). Heredity transmission through the sperm and egg became known by 1860. Ernst Haeckel,
noting that sperm consisted largely of nuclear material, postulated that the nucleus is responsible for
heredity. Oscar Hertwig (1875) observed the entrance of the sperm into the sea urchin. He found nucleus
to play an important role in hereditary mechanism. In 1884, Hertwig, identified the hereditary substance
with the chromatin of nucleus. Strasburger in 1875 discovered the chromosomes and he along with Kolliker
and Weismann formulated the nuclear theory of heredity. Flemming (1882) investigated the process of
mitosis.
Other notable scholars made some remarkable contributions. In 1909 Johannsen formulated the genotype-
phenotype concept to distinguish hereditary variations from environmental variations. According to him,
the genotype of an individual represents the sum total of heredity, while phenotype of an individual
represent the observable structural and functional properties which are produced by the interaction between
genotype and environment. (In 1877, Johannsen coined the term gene). The hypothesis that gene can change
(mutate) to give rise to new genes (mutant genes) was seriously tested, beginning in 1908 by American
biologist Thomas H. Morgan and his PhD students when they worked on fruit fly, Drosophila
melanogaster. The first white eye mutant was detected in Drosophilia by his team of workers, which made
up their first report case of sex linkage. In 1911 T.H Morgan (1866-1945) proposed the theory of linkage.
He turned the chromosome theory of inheritance into the concept of genes being located in a linear array
on each chromosome.
Scope of Genetics
Geneticists study all aspect of gene. These aspects include:
1. Transmission genetics which is the study of the mode of gene transmission from generation to generation.
2. Molecular biology which is the study of structure and function of the gene forms
3. Population genetics which is the study of behavior of gene in population.
These three major divisions of genetics are arbitrary and there is considerable overlapping. The knowledge
of how genes act and how they are transmitted down through the generations has been unified in biology.
An understanding of how genes act is an essential prerequisite for biological field of study such as
development, cytology, physiology, and morphology. An understanding of gene transmission is a
fundamental aspect of areas such as ecology, evolution, and taxonomy. Further unification has resulted
from the discovery that the basic chemistry of gene structure and function is very similar across the entire
spectrum of life on the earth.
Importance of Genetics
Genetics is important in medicine, agriculture, ecology, philosophy, sociology, and law.
Branches of Genetics
The science of genetics has proliferated into numerous distinctive sub-disciplines, some of which include:
1. Plant genetics: the genetics of plants
2. Animal genetics: the genetics of animals
3. Human genetics: It involves the study of heredity of human traits, human disorders, betterment and
correction of human disorders.
4. Microbial genetics: the genetics of microorganisms including viruses, bacteria, unicellular plants and
animals.
5. Fungal genetics or mycogenetics: the genetics of fungi
6. Viral genetics: genetics of virus
7. Drosophila genetics: Genetics of fruit fly, Drosophila sp
8. Mendelian genetics: the study of heredity of both qualitative (monogenic) and quantitative (polygenic)
traits and the influence of environment on their expressions.
9. Quantitative genetics: it involves the study of quantitative traits such as height, weight, and IQ in human
beings and milk production in cattle.
10. Morganian genetics: The study of recombination (cross over) in all kind of organisms such as higher
plants, animals, fungi and viruses.
11. Non-Mendelian genetics: It is the study of the role of cytoplasm and its organelles (particularly
chloroplast and mitochondria) in heredity.
12. Mutation: They involve study of heredity of both chromosomal changes (structural and numerical) and
also gene mutation.
13. Cytogenetics: It provides the cytological explanations of different genetic principles.
14. Molecular genetics: It is the study of structure and function of the gene and regulation of its activity.
15. Transmission genetics: It includes the mode of gene transmission from generation to generation.
Mendel’s work is a typical example of transmission genetics.
16. Clinical genetics: It involves the detection of causes of diseases such as hemophilia, colour blindness,
diabetes, and phenylketonuria.
17. Immunogenetics: Deals with the genetics of the production of different types of antibodies; the diversity
of antibodies has been found to be under control of genetic regulation.
18. Behavioural genetics: it involves the interaction of genes with the environment to produce a particular
pattern of behavior. In Drosophila many behavior genes have been identified for instance described as
sluggish, non-climbing, flightless, easily shocked, etc. and genes regulating sexual behavior.
Some Terminologies in Genetics
The science of genetics has its specific terminology which minimizes the chances of confusion,
inconveniences and unnecessary repetition of full sentences. They are:
1. Acquired character: the alteration in the morphology or physiology of an organism in response to its
ecological factors (environment).
2. Albino: the animal without pigmentation in skin, hair, and eyes. In plants, the absence of chloroplast in
a plant could be termed albinism.
3. Allele (allelomorph): One of two or more forms that can exist at a single gene locus, distinguished by
their different effect on the phenotype. They are genes controlling the same characteristics (e.g hair colour)
but producing different effects (e.g. black or red), and occupying corresponding positions on homologous
chromosomes.
4. Aneuploidy: Karyotypic abnormality in which specific chromosome(s) is present in too many or too few
copies.
5. Autosomes: The chromosomes which are not associated with sex are known as autosomes. Except the
sex (X and Y) chromosomes, others are autosomes.
6. Back cross: The cross of a progeny individual with its parent
7. Carrier: A heterozygous individual who possesses a mutant allele but does not express it in the phenotype
due to the dominant allelic partner. The individual has genotype Aa.

Mendel’s work
Gregor Johann Mendel (1822 to 1884), an Augustinian monk living in Brünn (Brno), Moravia was the first
person to formulate the principles of heredity. While breeding peas in a small monastery garden from 1856
to 1864, Mendel examined with great care the progeny of many thousands of plants. He presented in elegant
simplicity the laws governing transmission of characters from parents to offspring.
MENDEL’S SELECTION OF THE EXPERIMENTAL PLANT
For his hybridization experiments, Mendel had certain consideration in his mind about the choice of a
suitable material. Mendel’s considerations about the material were as follows :
1. Variation. The organisms which are to be chosen for the genetic experiments, should have a number of
detectable differences and at a time only single detectable character should be considered.
2. Reproduction. The chosen organisms should be sexually reproducing (i.e., by fusion of male and female
sex cells) because only then the offspring will be able to receive different characters from both the male
and female parents.
3. Controlled mating. The chosen organisms should be able to mate in controlled or well-planned
conditions. Because in genetic experiments sometimes we have to rear genetically pure parents by methods
of controlled mating. One should maintain careful records of the offspring of many generation.
4. Short life cycle. The chosen organisms should have very short life cycles.
5. Large number of offspring. The organisms which have been chosen for the genetic experiments should
produce large number of offspring after each successive mating because it will help in deducing the correct
conclusions
6. Convenience in handling. The experimental species should be of a type that can be raised and maintained
conveniently and inexpensively in the laboratory. For instance Drosophila, pea plants, tomato, rats, guinea
pigs, etc., which have been generally used and are still used in hybridization experiments. Arabidopsis
thaliana is a small, economically unimportant member of mustard family which has become a most favorite
research material for the plant geneticists and molecular biologists. A. thaliana is often nicknamed as
Drosophila melanogaster (an insect) and Caenorhabditis elegans (a nematode) of the plant kingdom. This
plant has the following advantages: 1. small size; 2. short generation time (about 5 weeks); 3. high seed
production (up to 40,000 seeds per plant); 4. very small genome (7X107 nucleotide pairs); 5. very little
interspersed repetitive DNA; and 6. natural self pollination.
MENDEL’S MATERIAL AND CROSSING TECHNIQUE
The edible pea (Pisum sativum) were found to be a best material for Mendel’s hybridization experiments.
This is due to the various contrasting characters among its different varieties such as stem may be tall or
dwarf, cotyledons may be green or yellow; seeds may be round or wrinkled, seed coat may be coloured or
colourless; the unripe pods may be green or yellow; the ripe pods may be inflated or constricted between
the seeds, flowers may have axial or terminal positions and the colours of flowers may be red or white.
Besides these contrasting characters, the pea plant is a very satisfactory material for the hybridization
experiments due to its flower structure. The flowers of pea plants are so unique in that the pollens of a
flower normally fall on the stigma of the same flower and, thus, affects self-pollination or self-fertilization.
For the required cross-pollination, the anthers have to be removed from the flower in bud stage (i.e., before
their maturity). This operation of removal of anthers is called emasculation. The stigma is protected against
any foreign pollen with the help of its covering by a bag. The pollen, then at the dehiscence stage is brought
from the plant to be used as a male parent and by the help of a brush is dusted on the feathery stigma of the
emasculated flower. At the time of such cross pollination, the pollen should be mature and stigma should
be receptive.
For each of seven pairs of characters listed in Table 3.1, plants with one alternative trait were used as female,
and those with the other alternative as male. Reciprocal crosses were also made, i.e., each of the crosses
was made in two ways, depending on which phenotype is used as male or female. For example the following
two crosses are reciprocal crosses: A (Tall male) x a (dwarf female) or a (dwarf male) x A (tall female).
The population obtained as a result of crossing plants showing contrasting characters is called F1
generation. The progeny of F1 plants was then obtained by self-fertilization and it forms the F2 generation.
Similarly, F3, F4, etc., generations can also be obtained.
On the basis of the results of his experiments Mendel recognized the phenomenon of dominance and
formulated following two laws:
1. Law of segregation;
2. Law of independent assortment.
Mendel did not actually postulated any genetic principle or laws, he simply gave conclusive theoretical and
statistical explanations for his hybridization experiments in his research paper. However, it was Correns,
the discoverer of Mendel’s work, who thought that Mendel’s discovery could be represented by these
fundamental laws of heredity.

PHENOMENON OF DOMINANCE
The cross between the pea plants differing in single pair of contrasting characters is known as monohybrid
cross. As we have already noticed that when Mendel made a monohybrid cross (Fig. 3.2) between tall and
dwarf pea plants then only tall pea plants appeared in the first filial generation (F1). But when the F1
progeny were allowed to be self-fertilized, both tall and dwarf characters appeared in the second filial
generation or F2. This shows that in F1 hybrid the character of tallness dominates or conceals the character
of dwarfness and so the character of dwarfness could not express itself in F1 generation. The character
which expresses itself (i.e., tall) in F1 generation is called by Mendel as dominant character, while the
character which remained unexpressed or latent had been called recessive. According to these results
Mendel described the phenomenon of dominance in following way: in crossing between pure (homozygous)
organisms for contrasting characters of a pair, only one character of the pair appears in the first filial
generation. In pea plant Mendel found following characters to be dominant or recessive in various pairs of
contrasting characters (see Table 3.1)

Examples of Phenomenon of Dominance

The validation of the phenomenon of dominance on several plants and animals was done by Mendel several
geneticists who found its wide application in various plants and animals.
1. Phenomenon of Dominance in Plants
Besides pea plant, the phenomenon of dominance has also been observed in the following plants (see Table
3-2).
2. Application of Phenomenon of Dominance in Animals
A. The phenomenon of dominance is also applicable well to the animals. For instance, when homozygous
black guinea pig is crossed with a homozygous white guinea pig (Fig. 3.3) then all hybrids of first filial
generation (F1) are found to be black. The black hybrids of F1 when mated among themselves they
produced black and white offspring in 3:1 ratio. This shows that black coat colour dominates over white
coat colour.

B. Certain other examples of phenomenon of dominance in animals. The dominant and recessive traits or
characters of some animals can be tabulated in following table:
C. Dominant and recessive characters in man. In man various types of dominant and recessive characters
have been reported. According to their nature these can be divided into normal, abnormal, and sex-linked
characters.
(i) Normal characters. These characters always behave as dominant and recessive. These are tabulated as
follows:

(ii) Abnormal characters. The abnormal characters occur unusually and can be tabulated as follows:
(iii) Sex-linked characters. Certain dominant and recessive characters depend on the sex of individual and
are sex-linked. These are as follows:
1. Colour vision: Normal (Dominant) and Colour blind (Recessive).
2. Blood clotting: Normal (Dominant) and Haemophilia (Recessive).
Mechanism of Dominance
Mendel observed that a factor or gene was responsible clear cut difference in between the actual visible
character. Gene is the unit of inheritance that is transmitted in a gamete and determines or controls the
development of a character by interaction with the other genes, the cytoplasm and the environment. The
cytological investigations have now established that the genes are the units of deoxyribonucleic acid (DNA)
which along with ribonucleic acid (RNA) and nucleoproteins constitute the thread-like stainable structures
the chromosomes. The chromosomes are specific in number, shape and size to a particular species. A
diploid cell has two sets of chromosomes which come from two different parents (male and female) via
gametes (sperm and ova). The chromosomes of similar size and nature often form pairs during meiotic cell
division and such identical chromosomes are known as homologous chromosomes. Each character of a pair
of contrasting characters is represented by an allele. (When a gene for a unit character contains two or more
alternative forms, they are called allelomorphs or alleles. All alleles of a gene are produced due to mutation
of a wild gene (or normal gene). Thus, homozygous tall pea plant has two identical alleles TT on both gene
loci of the homologous chromosomes; likewise, homozygous dwarf pea plant contains tt alleles.
During the gametogenesis, the homologous chromosomes with TT or tt genes are separated and each
chromosome with T or t gene is passed to the gamete. The gametes of both parents unite during the process
of fertilization and produce a new individual containing both tall (T) and dwarf (t) characters.
LAW OF SEGREGATION
Mendel’s first law–the law of segregation is also known as law of purity of gametes. The law states that the
hybrids or heterozygotes of F1 generation have two contrasting characters or allelomorphs of dominant
and recessive nature. These alleles though remain together for long time but do not contaminate or mix
with each other and separate or segregate at the time of gametogenesis, so that each gamete receives only
one allele of a character either dominant or recessive. For the proper understanding of the Mendel’s law
of segregation it will be helpful to study one of the Mendel’s monohybrid cross (Fig. 3.5). Mendel crossed
a homozygous red flowered pea plant with a homozygous white flowered pea plant. The F1 heterozygotes
or hybrids were found to be pink or purple flowered, thus, showing the incomplete dominance of red colour
over white colour. When the F1 hybrids were allowed to be self-fertilized, they produce both coloured (red
or purple) and white flowered pea plants in F2 generation in the ratio of three and one (3:1). The
reappearance of white colour in F2 generation indicates towards the process of segregation.
Mechanism of Segregation
The mechanism of segregation in above mentioned monohybrid cross between red and white flowered pea
plants can be understood by assuming that the homozygous red flowered pea plant has the allele RR for
redness and white flowered pea plant has the alleles rr for whiteness. The pea plant with RR alleles produces
the gametes with single allele R and pea plant with rr alleles produces the gametes with the allele r. The
gametes of both united to form a hybrid or heterozygote having the alleles Rr both for redness and
whiteness. Due to the phenomenon of incomplete dominance the allele R for red colour partially expresses
itself in hybrids of F1, while the allele r for white colour remains latent or recessive. Both the allele R and
r remain together for long time but they do not effect each other. Neither they mix nor they contaminate
each other. Because a gamete can contain only one chromosome of a homologous pair, therefore, each
gamete can carry single allele R or r. At the time of gametogenesis two types of gametes are produced by
F1 hybrids in equal numbers. Half of the gametes carry the allele R and other half carry the allele r. These
gametes during the process of fertilization can unite in three possible combinations, viz., RR, Rr and rr, to
produce three types of individuals in F2 generation. Thus, in F2 75% individuals have coloured flowers and
25% white flowers. The appearance of white colour in F2 generation indicates that in the hybrid the allele
(r) for white colour remains along with allele (R) for red colour but does not mix with it or contaminated
by it and it separates or segregates during gametogenesis.
LAW OF INDEPENDENT ASSORTMENT
To formulate the law of dominance and law of segregation, Mendel considered monohybrid crosses in
which single pairs of contrasting characters were considered at a time. But he tried to find out how different
characters would behave in relation to each other in their inheritance from generation to generation. For
this purpose Mendel crossed two varieties of pea plants which were differing in two pairs of contrasting
characters. Because such crosses yielded dihybrids and at a time two pairs of contrasting characters had
been considered in them, therefore, these crosses were known as dihybrid crosses.
Mendel’s Dihybrid Cross
In one of his hybridization experiment Mendel crossed a homozygous pea plant having yellow round seeds
with the homozygous pea plant having green wrinkled seeds (Fig. 3.9). The F1 hybrids were found to have
yellow round seeds. When the F1 hybrids were allowed to cross among themselves they produced four types
of seeds in the ratio of 9 : 3 : 3 : 1 given as follows :
1. Yellow Round – 9 3. Green Round – 3
2. Yellow Wrinkled – 3 4. Green Wrinkled – 1.
Beside getting the ratio of 3 : 1 of the monohybrid crosses Mendel got the ratio of 9 : 3 : 3 : 1.
This irregularity in the ratio of F2 offspring was explained by Mendel stating that “when the parents differ
from each other in two or more pairs of contrasting characters or factors then the inheritance of one pair
of factors is independent to that of the other pair of factors”. This is the Mendel’s law of independent
assortment.

Mechanism of Independent Assortment

The mechanism of independent assortment can be understood easily by assuming that the homozygous pea
plant with yellow round seeds has the alleles YY and RR for the yellow colour and roundness of the seed,
respectively. Similarly the homozygous pea plant with green wrinkled seeds contains the alleles yy and rr
for the green colour and wrinkledness of seeds. The gametes which are produced by YYRR and yyrr plants
are YR and yr types respectively. When both parents are crossed the union of both types of gametes takes
place to give the F1 hybrid (Yy Rr). The F1 hybrid have been found to contain yellow round seeds showing
the dominance of allele Y for yellow colour over the recessive allele y for green colour and the dominance
of allele R for roundness over the recessive allele r for wrinkledness of seed. Now the F1 hybrids have four
types of alleles, viz., Y for yellow colour, y for green colour, R for round shape and r for winkledness of
seed. During gametogenesis these four alleles, may combine in following four combination:
1. The allele Y may be associated with the allele R to give rise YR combination.
2. The allele Y may be associated with the allele r to give rise Yr combination.
3. The allele y may be associated with the allele R to give rise yR combination.
4. The allele y may be associated with the allele r to give rise yr combination.
Thus, four types of alleles are assorted independently to produce four types of gametes, viz., YR, Yr, yR
and yr. These four types of gametes (pollens or ovules) of F1 hybrid unite at random in the process of
fertilization and produce sixteen types of individuals in F2 generation which are given in the table 3.6.

Thus, the sixteen F2 individuals have the ratio of 9 yellow round: 3 yellow wrinkled: 3 green round: 1 green
wrinkled. These results have proved the law of independent assortment and showed that each pair of
contrasting characters behaves independently and bears no permanent association or relation with a
particular character. The allele Y was associated with allele R in parent but it does not always remain
associated with it and it is also associated with the allele r.

Back Cross and Test Cross

When F1 individuals are crossed with one of the two parents from which they were derived, then such a
cross is called back cross. In such back crosses, when F1 is back crossed to the parent with dominant
characters (phenotype), no recessive individuals are obtained in the progeny. On the other hand, when it is
crossed with recessive parent, both phenotypes appear in the progeny. While both of these crosses are back
crosses, only the cross with the recessive parent is known as test cross. It is called a test cross, because it is
used to test whether an individual is homozygous (pure) or heterozygous (hybrid). For a monohybrid the
test cross ratio remains 1 : 1, but, for a dihybrid test cross ratio becomes 1 : 1 : 1 : 1.
Example of Monohybrid Back Cross and Test Cross
In a monohybrid cross of homozygous tall (DD) and homozygous dwarf (dd) pea plants, when a F1
haterozygous tall (Dd) plant is crossed either with its dominant parent to perform a back cross or with its
recessive parent to perform a test cross following results are obtained:
Example of Dihybrid Test Cross
The test cross of a heterozygous yellow round seeded pea plant with a double recessive parent
(green wrinkled, yyrr), yields the test cross genotypic and phenotypic ratio of 1:1:1:1 as follows:

Multihybrid Cross
The parents which differ in more than two pairs of contrasting characters then the cross between them is
known as polyhybrid or multihybrid cross. The F1 hybridsin these cases are known as polyhybrids or
multihybrids. The law of independent assortment is also applicable to these crosses.
Example of a Multihybrid Cross
For example, we can consider a trihybrid cross of pea plant. The mating of a homozygous yellow, round,
and tall pea plant (YY RR TT) with a homozygous green, wrinkled, and dwarf pea plant (yy rr tt) produces
in F1 yellow, round and tall (Yy Rr Tt) trihybrids. These F1 trihybrids when self-crossed among themselves,
they produce a F2 progeny including 64 individuals in the phenotypic ratio of 27 yellow, round, tall : 9
yellow, round, dwarf : 9 yellow, wrinkled, tall : 9 green, round, tall : 3 yellow, wrinkled, dwarf : 3 green,
wrinkled, tall : 3 green, round, dwarf : 1 green, wrinkled, dwarf or 27 : 9 : 9 : 9 : 3 : 3 : 3 : 1. The possible
genotypes and phenotypes of this trihybrid cross have been summarized in Table 3.7.
DEVIATION FROM MENDEL’S DIHYBRID PHENOTYPIC RATIO
The Mendelian dihybrid phenotypic ratio of 9 : 3 : 3 : 1 is obtained only when the alleles at both gene loci
display dominant and recessive relationship. If one or both gene loci have incompletely dominant alleles,
or codominant alleles or lethal alleles, the dihybrid ratio becomes modified variously, such as follows:
1. 3: 6 : 3 : 1 : 2 : 1 Ratio
When the dihybrid parent have dominant and recessive alleles at one gene locus and codominant alleles at
second gene locus, the F2 9 : 3 : 3 : 1 phenotyic ratio becomes 3 : 6 : 3 : 1 : 2 : 1. Example. In cattles,
hornless or polled (P) condition is dominant to horned (p) condition, and trait of white (W) coat is
codominant to the trait for red (w) coat colour. The mating of homozygous white polled (PP WW) cattle
with a homozygous red horned (pp ww) cattle produces F1 heterozygotes (dihybrids) with the phenotype
of hornless, roan and genotype of Pp Ww. These hornless roan F1 dihybrids produce a F2 progeny in the
ratio of 3 : 6 : 3 : 1 : 2 : 1 as illustrated in following diagram:

2. 1:2:1:2:4:2:1:2:1 Ratio
When each parent of a dihybrid cross has incompletely dominant alleles at both gene loci, then in F 2 large
number of phenotypic classes are produced. Example. In snapdragons, red flower colour (R) is incompletely
dominant to white flower colour (r) and trait for broadness of leaf (B) is incompletely dominant to the trait
for narrowness of leaf (b). The dihybrid cross between red, broad plant (RR BB) and white, narrow plant
(rr bb) produces heterozygotes (dihybrids) having pink flowers and leaves of intermediate width and
genotype of Rr Bb. These F1 dihybrids produce the F2 progeny in 9 phenotypic classes as follows:

3. 3:1:6:2 Ratio When the F1 dihybrids have dominant-recessive alleles at one gene locus and recessive
lethal alleles at second gene locus, the F2 offsprings manifest the phenotypic ratio of 3 : 1 : 6 : 2.
4. 1:2 :1:3:4:2 Ratio When the F1 dihybrids contain codominant alleles at first gene locus and recessive-
lethal alleles at second gene locus, then their F2 progeny display the phenotypic ratio 1 : 2 : 1 : 3 : 4 : 2.
5. 4:2:2:1 Ratio This phenotypic ratio is obtained when at both gene loci of F1 dihybrids occur the recessive
lethal alleles.