Unit 1 Introduction to Genetics

UNIT 1

INTRODUCTION TO
GENETICS

Structure
1.4 Mendel’s Classical
1.1 Introduction
Experiments with Pea
Objectives
Choice of material
1.2 Development of Genetics – A
Monohybrid Crosses and
Historical Perspective
Mendel’s Law of Segregation
Birth of Genetics
Dihybrid Crosses and Mendel’s
Growth of Genetics : From Law of Independent Assortment
Mendel to Genetic Engineering
Trihybrid Crosses
1.3 Some Basic Genetic
1.5 Summary
Terminology
1.6 Terminal Questions
Gene
1.7 Answers
Genes and Alleles

Homozygous and Heterozygous

Phenotype and Genotype

1.1 INTRODUCTION
Genetics is the study of heredity. It is an ancient discipline. Atleast 4000 years
ago, in Sumeria, Egypt and other parts of the world, farmers recognised that
they could improve their crops and their animals by selective breeding. Their
knowledge was based on the experience and they recognised that many
features of plants and animals were passed on from generation to generation.
Furthermore, they were aware that desirable traits – such as size, speed and
weight of animals could sometimes be combined by controlling mating, and
that in plants, crop yield and resistance to arid conditions could be combined
by cross pollination, The ancient breeding programmes were not based on
experimental studies because nothing was known of genes or any of the
principles of heredity. 11
Block 1 Heredity and Phenotype
In this first unit of the course, we begin with a brief outline of the history of
development of modern genetics and then we would discuss Mendel's laws:
law of segregation and independent assortment and the molecular basis of
inheritance.

Objectives
After studying this unit you would be able to:

describe the historical developments and the landmarks in genetics,

outline the contributions of Mendel to the science of genetics,

define and use correctly the terms gene, allele, locus, genotype,
phenotype, dominance, recessiveness, homozygous, heterozygous
and testcross,

describe Mendel's breeding experiments,

state and explain Mendel's laws of inheritance, and

discuss the molecular basis of inheritance.

1.2 DEVELOPMENT OF GENETICS – A

HISTORICAL PERSPECTIVE
As systematic study of genetics began, answers were sought to questions
such as i) why are we like our parents? ii) why do organisms belonging to a
group have an astonishing similarity to each other? The first geneticists were
the persons who observed that "like begets like" and then used this basic
observation to improve their strains. Domestication of animals like dogs, cats
and cattle, was started when humans learnt how to control the matings of
these species. Once animals were tamed, people could breed more of those
which they found most useful and the control of lineage remained with
humans. Cultivation of crops required that seeds of one generation were
saved to produce the next generation. Therefore, the seeds that were saved
were from the largest and the healthiest plants.

Next, scientists started seeking answers to the question as to why we are like
our parents but are also different from them in many respects. It was only after
the work of Mendel was published in 1860s that answers to these questions
started to emerge.

1.2.1 Birth of Genetics

Modern genetics originated with Gregor Mendel's (Fig. 1.1) work. It is based
on this paper entitled “Experiments in Plant Hybridisation” published in 1866 in
the Proceedings of the Society of Natural History in Brno. Mendel carried out
detailed investigations of inheritance in garden pea. He performed elaborate
plant hybridisation experiments and kept accurate pedigree records of his
results (Fig. 1.2). With the data obtained, he was able to formulate the basic
12 principles of inheritance.
Unit 1 Introduction to Genetics
Mendel proposed the concept of hereditary units. According to him equal
number of these units (factors) inherited from each parent determined the
observable characters of the offspring. This was the first conceptualisation of
what is now referred to as particulate inheritance. Characteristics
themselves are not inherited but the particles, units or factors that determine
or control the observable traits are transmitted from parents to offspring. The
appearance of the character in the offspring is determined by the particular
combination of factors inherited from the two parents. This was the beginning
of the concept of a gene, which is the modern term for the hereditary units
or particles originally described by Mendel.

Mendel’s work was not appreciated by the rest of the scientific community until
1900, when three botanists Carl Correns in Germany, Hugo de Varies in the
Netherlands and Erich von Tschermak in Austria, rediscovered his work after
each had independently reached similar conclusions. They all found Mendel's
report while scanning the literature for related work and cited it in their own
publications. William Bateson (Fig. 1.3), an English scientist, coined the term
“genetics” in 1905 for this developing science. The term was derived from
Greek word which means “to, generate”. Many consider Bateson as the real
founder of genetics as he was the first to have Mendel’s papers translated into
English and the first one to show that Mendel’s theory was also applicable to
animals.

Fig. 1.1: Gregor Johaan Mendel – the father of the Science of Modern Genetics.
Born – 22 July, 1822 in Czechoslovakia. Died – 6 January, 1884 Brno
Czechoslovakia. He was born in a small village and was the only son of
a peasant family. Mendel had an insatiable curiosity about the natural
and the physical world and was keenly interested in the diversity of
living beings. His parents could not afford his higher education. He
joined a monastery of St. Thomas, which was at that time in Austria and
now in Czechoslovakia. His interest in Botany began early in life, as
farming and the development of new varieties of apples were his
family’s chief occupation. His early interest was further stimulated by
his formal education which centred round mathematics, physics,
botany and zoology. The monastery provided him a stimulating
environment, as it was a centre of cultural, intellectual and religious life,
and its members and visitors included many notable scholars and
scientists of that period. In 1851, he joined the University of Vienna and
upon completing his course he returned to his teaching responsibilities
at Brno. His experiments in plant hybridization were carried out in the
monastery garden for several years beginning from 1826. Mendel
combined his talents, background and interests in a series of
experiments with garden peas. His experiments are now recognized as
classic example of carefully planned and executed scientific research. 13
Block 1 Heredity and Phenotype
1.2.2 Growth of Genetics: From Mendel to Genetic
Engineering
Genetics has come a long way and at present is a mature and dynamic
science. The science of genetics was buiIt on the foundation laid by Mendel
but it owes its present stature to the contributions of a large number of
scientists. In fact, the history and development of genetics is a subject worthy
of study. You will be studying about the important contributions of various
researchers in different units of this course. Nevertheless, a list of salient
developments/contributions in the field has been compiled in Table 1.1 to give
you some idea of their chronology.

Fig. 1.2: Monastery garden where Mendel’s experiments on peas were carried
out.

Table 1.1: The Genetics time Line (Modified from Gardner et al., 1991).

1865 Mendel read his paper to the Brunn Society for

Natural History
1866 Mendel his paper published in the Proceedings
of the Brunn Society for Natural History
1868 Miescher first study of DNA
1900 De Vries, Correns, and Mendel’s work discovered
Tschermak
1902 Boveri & Sutton demonstrated the presence of paired
chromosomes (homologs) in diploid
species
1905 Bateson named the science genetics
1908 Hardy & Weinberg formulated the “Hardy Weinberg Law”
relating genotypic frequencies to gene
frequencies in randomly mating
populations
1909 Johannsen introduced the term gene
1909 Garrod book on Inborn Errors of Metabolism
14
Unit 1 Introduction to Genetics
1910 Morgan established the sex-linked inheritance
of white eyes in Drosophila
melanogaster (Nobel Prize 1933)
1911 Morgan postulated the chromosomal basis of
linkage
1913 Sturtevant construction of a genetic map
1927 Muller reported the use of the CIB technique
to demonstrate that X-rays are
mutagenic (Nobel Prize, 1946)
1928 Griffith discovery of transformation in
Diplococcus pneumonia
1931 Creighton & McClintock demonstrated that genetic
recombination is correlated with the
exchange of morphological markers on
chromosomes
1940 Oliver demonstration of recombination within
the lozenge functional unit in
Drosophila
1941 Beadle and Tatum one gene one enzyme concept (Noble
Prize 1958)
1944 Avery, MacLeod & demonstrated that the pneumococcal
McCarty “transforming principle” is DNA
1946 Lederberg & Tatum discovered conjugation in bacteria
(Nobel Prize 1958)
1950 McClintock first to present a paper on
“Transposable elements” in Maize
(Nobel Prize 1983)
1952 Hershey & Chase demonstrated that the genetic material
of bacteriophage T2 is DNA (Nobel
Prize 1969)
1952 Zinder & Lederberg discovered the phage-mediated
transduction in bacteria
1953 Watson & Crick worked out the double-helix structure of
DNA using the X-ray diffraction data of
Wilkins and the base compostion data
of Chargaff (Nobel Prize 1962)
1955 Benzer first to present a paper on the fine
structure of the Phage T4 rII locus
1956 Tjio & Levan established that the normal diploid
chromosome number in human is 46

1957 Fraenkel-Conrat & Singer demonstrated that the genetic

information of tobacco mosaic virus is
stored in RNA
15
Block 1 Heredity and Phenotype
1958 Meselson & Stahl demonstrated that DNA replication is
semi-conservative

1958 Kornberg isolated DNA polymerase I from E. Coil

(Nobel Prize 1959)

1959 Ochoa discovered RNA polymerase (Nobel

Prize 1959)

1961 Jacob & Monod proposed the “Operon Model” for

regulating gene expression (Noble
Prize 1965)

1964 Yanofsky & colleagues; established colinearity between

Brenner & colleagues polypeptide products

1964 Temin proposed the DNA provirus from RNA

tumour viruses (Nobel Prize 1975)

1965 Holley worked out the first complete

nucleotide sequence of a tRNA (Nobel
Prize 1968)

1966 Nirenberg, Khorana established the complete genetic code

&coworkers (Nobel Prize 1968)

1970 Nathans & Smith isolated the first restriction

endonuclease (Nobel Prize 1978)

1970 Baltimore identified reverse transcripatase of

RNA tumour viruses (Nobel Prize 1975)

1972 Berg produced first recombinant DNA (Nobel

Prize 1980)

1976 Bishop & Varmus demonstrated the protooncogene to

oncogene relationship (Nobel Prize
1989)

1976 Hozumi & Tonigawa demonstrated somatic rearrangements

of gene encoding antibodies

1977 Breathnach, Mandel & demonstrated the presence of introns

Chambon; Jeffreys & in eukaryotic genes
Flavell

1977 Maxam & Gilbert; Sanger, description of the DNA sequencing

Nicklen & Coulson techniques

1977 Sanger & colleagues worked out the complete 5387

nucleotide sequence of phage φX174

1978 Three different discovered “splicing” of adenovirus

laboratories RNAs

1982 Sanger & colleagues worked out the complete 48,502

nucleotide-pair sequence of phage
lambda
16
Unit 1 Introduction to Genetics
1983 Cech & Altman established the existence of catalytic
RNAs (Noble Prize 1989)

1985 Jeffery DNA finger-printing

1988 Watson established the existence of catalytic
RNAs (Nobel Prize 1989)

1989 NIH Recombinant DNA recommended approval of first-human

Advisory Committee “gene transplant” experiment

1989 Tsui, Collins & colleagues coloned the “cystic fibrosis gene”
1990 Saiki Polymerase chain reaction

1993 R. Roberts, P. Sharp, K. RNA processing of split genes (Nobel

Prize 1993)

1993 Mullis and M. Smith Development of polymerase chain

reaction (PCR) and site-directed
mutagenesis (SDM)

1995 E. B. Lewis, C. Nusslein- Genetic control of early development of

Volhard and E. Wieschaus Drosophila (Nobel Prize 1995)

1997 S. Prusiner Prions-a new biological principle of

infection (Nobel Prize 1997)

1999 G. Blobel Genetically encoded amino acid

sequences in proteins that guide their
cellular transport (Nobel Prize 1999)

2001 L. Hartwell, T. Hunt and P. Genes and regulatory molecules

Nurse controlling the cell cycle (Nobel Prize
2001)

2002 S. Brenner, H.R. Horvitz Genetic regulation of organ

and J.E. Sulston development and programmed cell
death (Nobel Prize 2002)

2006 A.Z. Fire and C.C. Mello RNA interference (RNAi) (Nobel Prize
2006)

2006 R. Kornberg Molecular basis of eukaryotic

transcription (Nobel Prize 2006)

2007 M.R. Capecchi, M.J. Development of gene-targeting

Evans and O. Smithies technology essential to the creation of
knockout mice serving as animal
models of human disease (Nobel Prize
2007)

2009 E.H. Blackburn, C.W. The nature and replication of the DNA
Greider and J.W. Szostak of telomeres, and the discovery of the
telomere-replenishing ribonucleoprotein
enzyme telomerase (Nobel Prize 2009)

The above table, however, is not complete as we intended to make it concise. 17

Block 1 Heredity and Phenotype
Presently, new information is accumulating at an unprecedented rate. Most of
the important contributions were made between 1970s and 1990s. The next
few years are going to be exciting as many scientists are working out details of
the molecular mechanisms responsible for differentiation in eukaryotes that
include humans as well. Several challenging areas in the field are open for
research, and perhaps one day we would be able to understand the molecular
basis of complex phenomena like learning, memory, cancer and aging.

1.3 SOME BASIC GENETIC TERMINOLOGY

Before we move on to discuss Mendel's experiments with pea in detail and the
laws of inheritance formulated by him, let us first understand some basic
genetic terminology.

1.3.1 Gene
You have studied that Mendel proposed the concept of hereditary units, which
were later on identified as genes. We shall elaborate on it further. Let us
consider different traits such as flower colour, seed shape or height in plants,
each of these characters is controlled by a different gene.

1.3.2 Genes and Alleles

The inheritance of any character can be studied only when there are two
contrasting conditions, such as yellow versus green seed colour (as observed
by Mendel in peas), normal pigmentation versus absence of pigmentation
(albinism) in humans and other animals, and brown versus black coat colour in
guinea pigs. An individual expresses one or the other, but not both contrasting
conditions at the same time. Genes that govern variations of the same
characteristic and that occupy corresponding loci on homologous
chromosomes are termed alleles (Fig. 1.3).

Geneticists use the term allele to emphasise that there are two or more
alternative forms of a gene that can occur at corresponding specific loci.
The possible variants of a gene at any given locus are known as alleles, each
of which is assigned a single letter (or a group of letters) as its symbol. In the
Mendel’s particulate example below, we shall consider the trait – height of pea plant. Tall forms are
hereditary elements denoted by T and the short ones are denoted by t. T and t are alleles of the
or factors are called same gene. Since they are present in pairs they are represented as TT, tt or
genes. Tt.

It is customary to indicate a dominant allele with a capital letter and a

recessive allele with a lower case letter. The choice of the letter or letters
themselves is generally determined by the first allelic variant in a particular
locus. For example, Mendel studied the alleles that govern seed colour –
yellow versus green. The allele that is responsible for the yellow colour of the
seed is designated as Y, and the allele for the green colour y. Because
discovery of the yellow allele made identification of this locus possible, we
commonly refer to the locus as the yellow locus, although pea seeds are most
commonly green. The term locus is used to designate not only a location on a
18 chromosome but also a kind of “generic” gene controlling a particular kind of
Unit 1 Introduction to Genetics
characteristic; thus Y (yellow) and y (green) represent a specific pair of alleles
of a locus involved in determining seed colour in peas. To prevent confusion,
the dominant allele is always designated first and the recessive allele second
(Yy, never yY). Geneticists use the term gene sometimes to specify a locus
and sometimes to specify one of the allelic variants at that locus. Usually the
meaning is clear from the context.

Fig. 1.3: Homologous chromosomes and alleles.

There are many genes within each chromosome, each generally different from
the other and each controlling the inheritance of one or more characteristic(s).
The members of a homologous pair of chromosome have similar set of alleles
arranged in the same order. The regularity of the mitotic process ensures that 19
Block 1 Heredity and Phenotype
each diploid daughter cell receives a pair of each chromosome and therefore a
pair of each gene. As the chromosomes separate during meiosis, and become
associated with new partners at the time of fertilisation, the alleles also
separate and associate with new partners. The entire concept of Mendelian
Genetics depends on these simple facts.

1.3.3 Homozygous and Heterozygous

Homozygous: Same In an individual two identical alleles may exist for a given character and,
factor. hence, the individual is referred to as Homozygous (e.g. AA and aa). If
Heterozygous:Differ there are two non-identical or different alleles for a given character, the
ent factors. individual is referred to as heterozygous (e.g. Aa).

Let us examine a situation where both the parents are homozygous. The male
is homozygous recessive aa, and female is homozygous dominant AA. During
meiosis in the male the two ‘a’ alleles separate from each other so that each
sperm has only a single ‘a’ allele. Similarly, in the female parent each egg has
one ‘A’ allele. The fertilisation of the ‘A’ egg by ‘a’ sperm results in a
Physical appearance: heterozygous animal with ‘Aa’.
Phenotype.
The form of gene which occurs in an individual in nature is called the ‘wild
Genetic constitution:
Genotype. type’ while a ‘mutant type’ is the one in which the genetic material is somewhat
altered. Mutants arise due to various reasons.

The alleles which express themselves in both homozygous and heterozygous

conditions are known as the dominant alleles. For example, TT represents
tallness (homozygous). The individuals having the alleles TT, and Tt would be
tall as T is a dominant allele and it can express itself in both homozygous and
heterozygous conditions.

Some alleles express themselves only in homozygous condition and are

referred to as recessive alleles. In the height characteristic, dwarfness can be
seen in individuals that have the alleles ‘tt’, i.e., recessive alleles are
expressed in homozygous condition only.

1.3.4 Phenotype and Genotype

From the above subsection it is clear that some alleles are dominant while
others are recessive. This indicates that we cannot always deduce the alleles
present in an organism by just looking at it. The phenotype is the term used to
specify the appearance of an individual in a given environment with respect to
a certain inherited trait. The genetic constitution of that organism, most often
expressed in symbols, is its genotype.

Using the same example as above let us understand the concepts of

phenotype and genotype. If the female parent has the genotype TT
(homozygous, dominant) can you guess the phenotype? Yes! It is Tall. If the
male parent is homozygous recessive ‘tt’ can you tell what is its phenotype?
The answer is dwarf. If these two parents are crossed then what would be the
genotype and phenotype of the offspring? The genotype would be ‘Tt’ and
20 phenotype would be tall.
Unit 1 Introduction to Genetics
Similarly, an individual has alleles that govern hair colour. These specific
alleles constitute the individual's genotype for hair colour. The actual hair
colour that the individual exhibits is its phenotype (black, brown, red, blonde
etc.). The crux of the above discussion is that the genetic constitution of an
individual is referred to as its genotype and the expression of these
genes as its phenotype.
Phenotype should be used in the broadest possible sense. Phenotype
commonly refers to visible characteristics such as size, shape, colour of the
parts of an organism, height, weight, length of limbs and so on. But other less
obvious characteristics also comprise the phenotype: behavioural traits
(twitches, yawns, posture, smiles per hour), physiology (heart rate, blood
pressure, level of basal metabolism) and biochemical characteristics
(cholesterol level, presence or absence of particular enzymes, blood type). In
fact, any trait of an organism which can be described and/or measured is the
phenotype of that character.
We hope that you have clearly understood the above basic terms. You would
learn about many more terms at relevant places in the following units.

SAQ 1
From the list of the items given below, select all those which are: i) phenotype,
ii) genotype, iii) homozygous, dominant, iv) homozygous, recessive, and v)
heterozygous. Write your answers in the space provided.
a) Rr ……………..
b) TT ……………..
c) Tt ……………..
d) tall ……………..
e) RR ……………..
f) Yy ……………..
g) rr ……………..
h) terminal flower ……………..
i) tt ……………..

SAQ 2
Make appropriate matches of the mentioned in column A with the explanation
in column B. Write your answers in the boxes.
A B
a) Genes ( ) i) any character of an organism that
can be measured or described
b) Phenotype ( ) ii) different alleles for specific traits on
homologous chromosomes
c) Chromosomes ( ) iii) contain hereditary units
d) Heterozygote ( ) iv) once called the inheritance “factors”
by Mendel

21
Block 1 Heredity and Phenotype
1.4 MENDEL’S CLASSICAL EXPERIMENTS WITH
PEA
Mendel’s studies provide an outstanding example of good scientific technique.
He chose research material well suited for the study of the problem at hand,
designed his experiments carefully, collected large amount of data and used
mathematical analysis to show that the results were consistent with his
explanatory hypothesis.

1.4.1 Choice of Material

Before Mendel, several investigators carried out research work to understand
the principles of inheritance, but they failed to reach meaningful conclusions
because of the unsuitability of the system they were studying. The garden pea
with which Mendel worked has several suitable features. The foremost were
that these plants were cheap, easy to obtain, required little space, had shorter
generation time, produced many offspring and could be crossed easily. The
pea flowers are bisexual and are usually self-fertilised, that is, the ovule
(female gamete) is fertilised by pollen(male gamete) from the same flower as
both the male and female parts of the flower are closed in a petal box or keel
(Fig. 1.4). Pollen from another plant can be experimentally introduced to the
stigma of a flower to bring about cross-pollination.

Fig. 1.4: A pea flower that is partially cut to show the reproductive parts.

Cross-pollination can be encouraged experimentally either by removing

stamens from female parent and placing pollen from another variety on the
stigma of its flowers (Fig. 1.5a), or by placing the pollen from the male parent
on the stigma of a different plant, whose stamens have been removed (Fig.
1.5b). Therefore, with the common pea plant, the geneticists can perform
crosses in the way they choose and can easily establish lineage or pedigree of
22 each plant in a particular cross.
Unit 1 Introduction to Genetics

(a) (b)

Fig. 1.5: Cross pollination in pea. In a) the anthers are removed in the purple
flowers to prevent self-pollination. Similarly, b) anthers are removed in
the white flowers and it is used for cross-pollination.
The pea plants varied with respect to a number of characteristics such as
plant height, seed texture, used colour and flowers colour. Such a variation is
essential if anything at all is to be learnt about the inheritance of any
character. If, for example, all pea plants were of the same height and had the
same flowers colour generation after generation, information would be gained
from following plant height and flower colour in genetic studies. A
characteristic must have alternative traits or variant forms that can be followed
if insight is to be gained regarding the inheritance pattern.
We have just discussed Mendel’s choice of material for experimentation. You
will find an explanation of Mendel’s experiments and how he deduced the
laws of inheritance from them in the following sections.

1.4.2 Monohybrid Crosses and Mendel’s Law of

Segregation
Before we discuss Mendel’s experiment let us clarify the terminology
encountered in breeding experiments. The Parental generation is called the P
or P1 generation. The progeny produced from the mating of individuals in the
parental generation is called the first filial generation or F1. The subsequent
generation produced by breeding of the F1 offspring is termed the F2
generation. Selfing the offspring of each generation results in F3, F4, F5
generation and so on.
Mendel’s Experiments and Results

Mendel undertook the study of seven characters of pea plant and their variant
forms as shown in Figure 1.6. Each trait was studied individually such as tall
versus dwarf, red flower colour versus white, yellow seeds versus green and
so on. He performed monohybrid crosses – crosses in which only one pair of
contrasting or alternative trait is involved. A cross is a mating between two
individuals leading to the fusion of gametes. For example, to study the
inheritance pattern of height, he crossed true breeding tall plants with dwarf
plants. True breeding lines are those plants which produce progeny exactly 23
Block 1 Heredity and Phenotype
like themselves when allowed to self pollinate normally. Thus, he obtained
true breeding tall (TT) and dwarf (tt) plants. Using these true monohybrid
crosses, homozygous tall and dwarf plants (P1 generation) were crossed to
give offspring (F1) which were all tall (Fig. 1.7). The same results were
obtained whether he used the tall plant as male or female parent, i.e.,

Tall female (♀) × male (♂) ------- All offspring tall

Dwarf female (♀) × tall male (♂) ------- All offspring tall

Such a cross is also called a reciprocal cross.

Fig. 1.6: The seven characteristics (a-g) in pea plant studied by Mendel. Each
24 character has two well defined phenotypes that are easily recognized.
Unit 1 Introduction to Genetics

Fig. 1.7: Monohybrid cross in the pea plant followed through three generation.
The results of the reciprocal cross i.e., dwarf × tall are identical.

Since a cross was made between a pure breeding tall and pure breeding
dwarf parent, Mendel surmised that these F1 tall individuals were not the same
as the P1 tall parent because they had alleles from the dwarf parent as well.
He allowed these F1 individuals to self pollinate and studied the F2 generation
(Fig. 1.7 again). In one cross he actually obtained 787 tall and 277 short
offspring. The ratio comes out to be 3:1. He further self pollinated (selfed) the
offspring and found that the short plants continued to produce only short one
(Fig. 1.7). On the other hand the tall plants were of two types: approximately
one third of them produced only tall offspring upon self fertilisation; the
remaining two thirds gave rise to both tall and short, again a ratio of
approximately 3:1. 25
Block 1 Heredity and Phenotype
Using the same quantitative approach Mendel analysed the behavior of the six
other pairs of traits. The results of such experiments were very similar to the
ones obtained with reference to the height of the plant (Table 1.2).

Table 1.2: A Summary of Mendel’s Results from the Seven Different

Monohybrid crosses (modified from Ayala, F.J. and Kiger, J.A.,
1984).

Character The Number of F2 Individuals

Phenotype
of F1 Dominant Recessive Total
Individuals

Seeds: smooth versus wrinkled All smooth 5474 1850 7324

Seeds: yellow versus green All yellow 6022 2001 8023

Flowers: purple versus white All purple 705 224 929

Flowers: axial versus terminal All axial 651 207 858

Pods: inflated versus pinched All inflated 882 299 1181

Pods: green versus yellow All green 428 152 580

Stem: tall versus short All tall 787 277 1064

Total or average 14,949 5,010 19,959

Mendel’s Explanation and Derivation of law of Segregation

Mendel questioned as to how a trait present in the P1 generation could

disappear in the F1 and then reappear with full expression in the F2
generation. Further, the F1 progeny resembled only one of the parents in their
phenotype and did not breed true. The F1 progeny possessed the potential to
produce F2 progeny that resembled the parents of P1 generation. Mendel
concluded that each one of the alternate traits, the tallness and the dwarfness,
was determined by a particulate factor. He reasoned that these factors which
were transmitted from parents to progeny through the gemetes, carried
hereditary information. At present these factors are known as Genes. Since
Mendel was examining pairs of contrasting traits each factor was considered
to exist in alternate forms (which are known as alleles). Each of these
alternate factors or alleles specifies a trait. For example, for the gene that
controls the height of pea plant, there is one form or allele that results in the
production of a tall plant and another allele that results in dwarf plant.

Mendel reasoned further that for pure breeding strains of the peas both egg
and pollen must have carried or transmitted forms of the factor. Since both
traits were seen in the F2 whereas only one appeared in the F1, each individual
must have contained both factors, one for each of the alternate traits.
Furthermore, since only one of the characters was seen in the F1’s, the
expression of the other trait must somehow have been masked by the other
factor, a feature called dominance. For the tall × dwarf cross the F1 plants
were all tall. Thus, the allele for tallness is dominant to the allele for
dwarfness. Conversely dwarfness is said to be recessive to tallness. Similar
conclusions can be made for the other six pairs of characters. The dominant
26 and recessive forms for each pair of traits are already indicated in Table 1.2.
Unit 1 Introduction to Genetics
We can understand the crosses more easily if we use symbols instead of
pictures or Figures (Fig.1.7) for the alleles. In a cross between tall and dwarf
plants, symbol T denotes the factor for tallness and the symbol t for
dwarfness. You already know the convention that the dominant allele is
denoted by the capital letters and the recessive allele is denoted by
lowercase or small letters. Using these symbols we can depict the cross as
shown in Figure. 1.8.

Since each parent is true breeding and each contains two copies of the
same allele, thus, the genotype of the parental plant grown from the tall
seeds is ‘TT’ and that of the dwarf plant is ‘tt’. You may recall that the true-
breeding individuals always carry a pair of same alleles, that is, they are
homozygous genotypes.

Fig. 1.8: Monohybrid cross of tall and dwarf pea plants. The results of the
reciprocal cross are the same. Compare with Figure 1.8. 27
Block 1 Heredity and Phenotype
When these plants produce gametes by meiosis, each gamete contains only
one copy of the gene (i.e., one allele), the plants from tall parents produce T-
bearing gametes, and the dwarf plants produce t-bearing gametes. When
these gametes fuse during the process of fertilization, the resulting zygote has
both T and t factors, i.e., a genotype ‘Tt’ (Fig. 1.8). What are such plants that
have two different alleles for a specific trait known as? Yes, it is heterozygous.
Because of the dominance of the ‘T’ allele all the plants developed from the F1
zygotes are phenotypically tall.

The plants derived from the F1 generation differ from the tall parent in that they
produce two types of gametes in equal numbers: T – and t – bearing. All the
possible F1 gamete combinations are represented in the matrix in Figure 1.8
called as a Punnett square after its originator R. Punnett. These gametic
fusions/combinations give rise to the zygotes that produce the F2 generation.

Three types of zygotes are produced : TT, Tt and tt. The relative proportion of
these zygotes is [Link] respectively, and the F2 generation exhibits a
phenotypic ratio of 3:1 (3 tall, 1 dwarf).

The results are the same for crosses involving the other six character pairs.

The Law of Segregation

Based on the results of the monohybrid cross, Mendel proposed his first law,
known as the law of segregation. It states that the members of a gene pair
(alleles) segregate (separate) from each other during the formation of
gametes. As a result, half the gametes carry one allele and the other half carry
the alternate allele. The progeny are produced by the random combination of
gametes from the two parents. In proposing the law of segregation, Mendel
clearly differentiated between the factors (genes) that determined the traits
(the genotype) and the traits themselves (the phenotype). From modern
perspective, this means that at the gene level the members of a pair of alleles
of a gene on a chromosome, segregate during meiosis, so that any offspring
receives only one member of the pair from each parent. This gene segregation
parallels the separation of members of pairs of homologous chromosomes at
anaphase I in meiosis.

To sum up, Mendel’s first law states that the members of a gene pair (allele)
segregate (separate) from each other while forming gametes; half the gametes
carry one allele, and the other half carry the other allele.

Representing Crosses Using a Branch Diagram or Forked-line Method

The use of Punnett square to consider the pairing of all possible gametic types
from the two parents (Fig. 1.9) is an acceptable way of predicting the ratios of
genotypes in the next generation. There is, however, another method – known
as the branch diagram or the forked-line method for representing the crosses.
We require the application of our mathematical knowledge here.

Do you remember the basic principles of probability? If not, for your ready
28 reference some basics of probability are given in Box 1.1.
Unit 1 Introduction to Genetics

Fig. 1.9: Representing the cross as shown in Fig. 1.8 and 1.9 by a branch
diagram method. This method helps in calculating the ratios of
phenotypes of the F2 generation in an easy way.

The F1 plants have the genotype ‘Tt’. Both eggs and pollen are produced in
the flowers of the plants grown from these seeds. In the meiotic process an
equal number of T and t gametes are expected to be produced so we can say
that half the gametes are ‘T’ and the other half are ‘t’. Thus, 1 2 is the
predicted frequency of these two types but just as tossing a coin many times
does not always give exactly half heads and half tails, the gametic frequency
may not be exactly realised. However, more the number of chances (e.g.,
tosses) the more likely you will obtain the true frequency.

From the rules of probability the relative expected frequencies of the three
possible genotypes in the F2 generation can be predicted. To produce a TT
plant, an egg with T must fuse with a pollen grain carrying T. The frequency of
T carrying eggs is and 1 2 and the same holds good for the pollen grains also.
Therefore, the relative expected proportion of ‘TT’ plants in the F2
1 2 × 1 2 = 1 4 . A similar proportion is expected for dwarf or ‘tt’ progeny.

What about the Tt progeny? Again the frequency of ‘T’ in one gametic type is
1 2 and the frequency of t in the other gametic type is also 1 2 . The first
involves the fusion of an egg with T and a pollen with t, and the second
involves the fusion of an egg with t and a pollen with T. Applying the product
rule (Box 1.1) the probability of one or the other occurring is the sum of the
individual probabilities, or 1 4 + 1 4 = 1 2

From the above discussion, prediction is made that 1 4 of the F2 progeny

would be TT 1 2 would be Tt and 1 4 will be tt. These figures are exactly
similar to those found with the method shown in Figure 1.9. Therefore, you can
apply either of these methods for any monohybrid cross. 29
Block 1 Heredity and Phenotype

Box 1.1: Some Basics of Probability

A probability is the ratio of the number of times a particular event occurs to

the number of trials during which the event could have happened. For
example, the probability of picking a heart (from 13 hearts) from a deck of
cards (52 cards) is p (heart) =13 52 = 1 4 . That is, we would expect, on the
average to pick a heart from a deck of cards once in every four trials.

Probability and the laws of chance are involved in the transmission of genes.
As a simple example, let’s consider a couple and the chance that their child
will be a boy or girl. Let us assume that an equal number of boys and girls
are born. The probability that the child be a boy is 1 2 or 0.5. Similarly, the
probability that the child be a girl is 1 2 .

Let us see some rules of probability. Firstly, we take up the product rule.
This rule states that the probability of two independent events occurring
simultaneously is the product of each of their probabilities. Thus, the
probability that a family will have two girls in a row is 1 4 . That is, the
probability of the first child being a girl is 1 2 , the probability of the second
being a girl is also 1 2 , and the product rule of the probability of the first and
the second being girl is 1 2 × 1 2 or 1 4 . Similarly, the probability of having
three boys in a row is 1 2 × 1 2 × 1 2 = 1 8 .

The sum rule of probability states that the probability, that one of two
mutually exclusive events will occur is the sum of their individual probabilities.
For example, if two dice are thrown, what is the probability of getting two
sixes or two ones? The probability of getting two sixes is found by using the
product rule. The probability of getting one six, p (one six) is 1 6 , since there
are six faces to a dice. Therefore, the probability of getting two sixes, p (two
sixes), when two dice are thrown is 1 6 × 1 6 = 1 36 . Similarly, p (two ones)
= 1 36 . To role two sixes or two ones involves mutually exclusive events, so
the sum rule is used to find the probability. The answer is 1 36 × 1 36 = 1 18 .

When a plant is Confirmation of the Law of Segregation: The use of Test Crosses
crossed with any of
its parents, it is called
Mendel did a number of tests to ensure the validity of his results while
a backcross. And formulating his law of segregation. He continued the self-fertilisations to the F6
when a plant is generation and found that in every generation both the dominant and
specifically crossed recessive characters appeared. He concluded that the law of segregation was
with its homozygous, valid no matter for how many generations it was carried out.
recessive parent,
then it would be In another experiment, instead of allowing the F1 heterozygous individuals to
called a testcross or
self-fertilise, he crossed them back to the recessive parent. Such a cross to a
test backcross.
recessive is called a test cross or some times a back cross (see the adjacent
Margin Remark) because it is used to test whether a dominant individual is
heterozygous or homozygous. For example, let us consider the case of
smooth and wrinkled seeds to understand it more clearly. The smooth (S)
character is dominant over the wrinkled (s). In the Figure 1.11 see the two
30 crosses (a & b).
Unit 1 Introduction to Genetics
In the Figure 1.10 you can see cross a. Here the gametes produced by
parent 1 are of two types S and s, whereas the second parent produces
only one kind of gametes, i.e., s. As a result of random fusion of gametes,
half the progeny of the test cross are Ss heterozygotes having a smooth
phenotype. Owing to the dominance of the S allele, and the other half are
ss homozygotes and have a wrinkled phenotype. Test crosses are useful in
determining the genotype of F1 individuals as well as their parents.

Fig. 1.10: (a & b) Cross with a recessive parent and to confirm the law of
segregation.

The ratio 1:1 of dominant to recessive phenotypes would indicate that the
F1 smooth seeds used in the test cross are heterozygous. We can similarly
predict the outcome of a test cross of a homozygous dominant (Fig
1.11,cross b). The first parent produces only one kind of gametes, that is,
S, and so does the other, producing only s gametes. Thus, all the progeny
are Ss and have smooth seed phenotype. 31
Block 1 Heredity and Phenotype
Therefore, we can conclude that if an organism in a test cross gives rise
to progeny with the dominant phenotype, then the test-crossed plant must
have been homozygous dominant (as shown in cross b above). For the Ss
plant a 1:1 ratio of dominant to recessive phenotypes is expected as is
seen in test cross ‘a’.

The above discussion highlights the fact that the phenotypes of the progeny
of the test cross indicates the genotype of the individual tested. If all the
progeny show dominant phenotype, the individual tested is homozygous
dominant. If there is an approximately 1:1 ratio of progeny with dominant and
recessive phenotypes, then the individual is heterozygous.

Reasons for Mendel’s Success

Mendel’s success with the hybridisation experiments was mainly due to the
following reasons:

First, careful choice and selection of experimental material, that is, garden
pea. Besides several advantages it offers as an experimental material as
described in Subsection 1.4.1, it must be mentioned that it a diploid organism
having two sets of chromosomes. Through many generations of natural self
fertilization, garden peas had developed into pure lines, each of which could
be differentiated by its own characteristic features. Furthermore, in the seven
pairs of contrasting traits, Mendel chose to study the two parental plants
exhibiting well-defined, visible, contrasting morphological traits. The factors
responsible for the expression of the seven pairs chosen for study are located
on seven different chromosomes which was a fortunate coincidence and this
avoided the phenomenon of linkage.

Second, much of Mendel’s success in his experiments may be attributed to

his good judgement in making crosses between the parents that differed in
only one trait. In other words, he considered only one trait at a time when
analysing the progeny of a cross.

Thirdly, he methodically documented the results of his experiments.

Fourthly, by the application of mathematics he could analyse the segregating

populations and make proper interpretations.

SAQ 3
Pollen from a tall pea plant was dusted on the stigma of a flower from a dwarf
plant. What would be the reciprocal cross?

SAQ 4
Put a tick mark (√) on the correct choice:

(a) The offspring of mating between two pure strains are called:

(i) hybrids

32 (ii) mutants
Unit 1 Introduction to Genetics
(iii) the P1 generation

(iv) the F2 generation

(b) An organism with two copies of the same alleles is:

(i) homozygous for the trait

(ii) homozygous for the allele

(iii) heterozygous for the trait

(iv) heterologous for the allele

(c) A woman without dimples marries a man who has dimples and who is
known to be heterozygous for the trait. What is the chance their first child
will have dimples?

(i) one in four

(ii) one in two

(iii) three out of four

(iv) it is certain

(d) A test cross is done to find out:

(i) the genotype of an individual by examining the phenotypes of its

offspring from a particular mating

(ii) the genotype of an individual by testing for its DNA content

(iii) whether a mating is fertile

(iv) whether two species can inter-breed

(e) A test cross distinguishes between

(i) two homozygous forms

(ii) a homogygous dominant and the heterozygous form

(iii) two heterozygous forms

(iv) a homozygous recessive and a heterozygous form

(f) The allele for black hair colour (B) is dominant over the allele for white
hair colour (b) in guinea pigs. A test cross between a black male a and a
white female produced a litter of five black and one white guinea pigs.
The genotype of the father is:

(i) unknown, due to the small sample size

(ii) BB

(iii) Bb

(iv) bb
33
Block 1 Heredity and Phenotype
1.4.3 Dihybrid Crosses and Mendel’s Law of
Independent Assortment
The experiments of Mendel that we have discussed so far have dealt with
crosses between plants differing in only one character or alleles at one locus.
The most logical extension of Mendel’s experiments is to determine what
happens when more than one pair of characters is simultaneously involved in
the cross. He performed a number of dihybrid crosses in which the parents
made different contributions for two traits. From these experiments he
proposed his second law, the law of independent assortment. This law
states that the factors or genes for different traits assort independently of one,
another. In other words, the genes on different chromosomes behave
independently for the production of gametes.

Let us examine the results of Mendel’s experiments in which he crossed plants

that differed in two characters. An example is mating of plants involving
smooth or round (S)/wrinkled (s) and yellow (Y)/ green (y) seed traits. As you
already know, yellow is dominant to green and smooth is dominant to wrinkled.
Mendel made crosses between true breeding smooth, yellow plants (SSYY)
and wrinkled, green plants (ssyy). The results are shown in the Figure 1.11.

All the F1 seeds from this cross were smooth and yellow as predicted from the
results of monohybrid crosses. The smooth yellow parents produce SY
gametes which give rise to SsYy zygotes when fused with the sy gametes
from other parent. Because of the dominance of the smooth and yellow traits,
all F2 seeds are smooth and yellow. As in the monohybrid crosses, the F1 were
selfed to give rise to the F2 generation.

Mendel thought of two possible outcomes. One, that the genes for the traits
from the original (P1) parent would be transmitted to the progeny together. If
this was the case then a phenotypic ratio of 3:1 smooth-yellow: wrinkled-green
would be obtained. The second possibility was that each of the traits would be
inherited independently of the other.

Let us examine the Figure 1.12 carefully. The dihybrid plants grown from the
F1 seeds produce four types of gametes: SY, Sy, sY and sy. Because of the
independence of the two pairs of genes there is an equal frequency of each
gametic type. When the F1 plants are selfed, these four types of gametes fuse
randomly in all possible combinations. All the possible 16 gametic fusions are
represented on the Punnett square in the above figure. In the dihybrid cross, 9
different genotypes are obtained but because of dominance only 4 phenotypes
are observed.

1 SSYY, 2 SsYY
 = 9 smooth, yellow
2 SSYy, 4 SsYy 

1 SSyy, 2 Ssyy = 3 smooth, green

1 ssYY, 2 ssYy = 3 wrinkled, yellow

1 ssyy, = 1 wrinkled, green

34 Mendel’s actual observations are shown in the Table 1.3.

Unit 1 Introduction to Genetics

Fig. 1.11: A dihybrid cross followed through the second generation. On

inspecting the Punnett square one can find nine different genotypes in
the F2 generation. Because of dominance in one member of each pair
of alleles, only four phenotypes are expressed.

Table 1.3: Results of Mendel’s Dihybrid Cross

Generation Seed Type Number F2 Ratio
Parents Round, green vs wrinkled, yellow
F1 Round, yellow
F2 Round, yellow 315 9.84
Wrinkled, yellow 101 3.16
Round, green 108 3.38
Wrinkled, green 32 1.00

556
35
Block 1 Heredity and Phenotype
From this example, it is clear that if two pairs of characters are inherited
independently then the selfing of F1 individuals will yield a [Link] ratio in the
F2 generation. This ratio arises as a result of independent assortment of two
gene pairs into gametes and of the random fusion of these gametes. The
[Link] ratio is the product of two 3:1 ratios, that is, (3:1)2 = [Link]. This
prediction was met in all dihybrid crosses that Mendel performed. In every
case the F2 ratio was close to [Link]. Based on the results, Mendel concluded
that the factors (genes) determining different traits were transmitted
independently.

Let us now sum up as to what we have learnt in this section so far. The
principle of independent assortment states that genes on one chromosome
segregate independently of those on another chromosome in the production of
gametes.

Branch Diagram of a Dihybrid Cross

As is already apparent, it is quite a tedious, time and space consuming job to

construct a Punnett square of gametic combinations, then to count the
numbers of each phenotypic class from all the genotypes produced. This
exercise is not too difficult for dihybrid crosses, but for more than two gene
pairs it becomes rather complex. So, it is better that we get into the habit of
calculating the expected ratio of phenotypic classes by using a branch
diagram.

We shall use the same example as the one used in Figure 1.12 where two
gene pairs assort independently into gametes. As you have seen earlier that
on selfing F1 of an Ss heterozygote gave rise to progeny of which three fourths
were smooth and one fourth were wrinkled. Genotypically, the former class
had atleast one dominant S allele, that is, its members were SS or Ss. A
convenient way to signify this situation is to use a dash to indicate an allele
that has no effect on the phenotype. Thus, S-means that phenotypically the
seeds are smooth and genotypically they are either SS or Ss.

Now consider the F2 produced from a selfing of Yy heterozygotes; again a 3:1

ratio is seen with three-fourth of the seeds being yellow and one-fourth of the
seeds being green. The same holds good for the smooth vs wrinkled seeds in
the F2 ratio. Let us now find out the expected proportion of F2 seeds that are
smooth and yellow. This ratio can be obtained by the product of the probability
that an F2 seed will be smooth and the probability that it will be yellow, or
3 4 × 3 4 = 9 16 (Fig. 1.13, 1st ratio). Similarly, the expected proportion of F2
individuals that are wrinkled and yellow is 3 4 × 1 4 = 3 16 (Fig. 1.13, 2nd
ratio). Extending this calculation to all possible phenotypes, as shown in the
36 Figure, we obtain the ratio [Link].
Unit 1 Introduction to Genetics

Fig. 1.12: The example used here is the same as that of Fig. 1.11. The above
Figure shows the calculation of the F2 phenotypic ratio by the branch
diagram method.

If one wishes to know the genotype of the F1’s and the F2’s from a dihybrid
cross, a test cross may be used. The example that we shall use to explain this
point is already familiar to you that is of smooth/wrinkled, and yellow/green
characters of pea seeds. The F1 here is a double heterozygote (Fig. 1.13)
SsYy. As you know this F1 (Fig. 1.13). You may recall that in a test cross, we
use a doubly homozygous recessive plant and in this case it is ssyy. A test
cross like this one, shows a [Link] ratio in the offspring of SsYy: ssYy:ssyy
genotypes which means a [Link] ratio of smooth-yellow:smooth-
green:wrinkled-yellow:wrinkled-green phenotypes. This [Link] phenotype
ratio is diagnostic of test crosses in which the “unknown” parent is a double
heterozygote.

In the F2 of a dihybrid cross there are nine different genotypic classes but only
four phenotypic classes. The genotypes can be ascertained by test crossing.
Use Table 1.4 for obtaining the genotypes. Substitute A, a, B and b in the table
with the respective character involved, i.e., with S, s Y or y. The test crosses in
the table (from top to bottom) lists the 9 genotypic classes and the top column
(from left to right) indicates the four phenotypic classes. 37
Block 1 Heredity and Phenotype

Fig. 1.13: A dihybrid (YySs) being test-crossed by double recessive, green

wrinkled parent (yyss).

Table 1.4: Proportions of Phenotypic classes Expected from test crosses

of strains with various genotypes for two gene pairs.

Test crosses Proportion of Phenotypic Classes

A- B- A- bb aa B- aa bb

AABB × aabb 1 0 0 0

AaBB × aabb 12 0 12 0

AABb × aabb 12 12 0 0

AaBb × aabb 14 14 14 14

AAbb × aabb 0 1 0 0

Aabb × aabb 0 12 0 12
38
Unit 1 Introduction to Genetics
aaBB × aabb 0 0 1 0

aaBb × aabb 0 0 12 12

aabb × aabb 0 0 0 1

From the above discussion it can be concluded that a test cross is a truly
diagnostic approach to confirm the genotype.

SAQ 5
Given below is a Punnett square, go through it carefully and then answer the
following question.

Female

AB Ab AB Ab

AB AABB AABb AABB AABb

Male Ab AABb 1 AABb AAbb

aB AaBB AaBb 2 AaBb

ab AaBb Aabb AaBb aabb

Key : A and B are dominant

a and b are recessive

a) The genotype of the male parent is …………… .

b) The genotype of the organism in box 1 is …………… .

c) The organism in box 2 is ……………. for trait ‘A’.

d) The organism in box 2 exhibits …………….. dominant genetic traits.

1.4.4 Trihybrid Crosses

Mendel also applied his laws to the inheritance of three characters in other
garden pea crosses. He found that both these laws hold good in this case
also. Such crosses involving three characters are called trihybrid crosses. In
such crosses too, the proportions of F2 genotypes and phenotypes are
predicted precisely with the same logic used before, with each character pair
considered independently. You can try drawing a Punnett square to find out
the genotypes as well as the phenotypic ratios, but here a branch diagram is
given to show the derivation of the relative frequencies of the phenotypic
classes. In the example illustrated in the Figure 1.14, the independently
assorting character pairs in the cross are: smooth versus wrinkled seeds;
yellow versus green seeds, and purple versus white flowers, there are 64
combinations of 8 maternal and 8 paternal gametes. Combination of these
gametes give rise to 27 different genotypes and 8 different phenotypes. 39
Block 1 Heredity and Phenotype

Fig. 1.14: Branch diagram of a trihybrid cross. The ratio of the eight phenotypic
classes above are calculated in the same manner as you have learnt in
Figs. 1.10 and 1.13.

1.5 SUMMARY
In this unit you have learnt:

• Genetics is a branch of biology concerned with the structure,

transmission and expression of hereditary information. More than a
century ago, an Austrian Monk, Gregor Mendel worked on garden peas.
He analysed the data mathematically and laid foundation for the science
of modern genetics.

• Genes are present on chromosomes. The term locus refers to the site a
gene occupies in chromosome.

• Different alternate forms of particular gene are called alleles; they

occupy corresponding loci on homologous chromosomes.

• An individual that carries two identical alleles for a given locus is said to
be homozygous for that locus. If the two alleles are different then the
individual is said to be heterozygous.

• According to Mendel’s law of dominance, one allele (the dominant allele)

masks the expression of the other allele (the recessive allele) in a
heterozygous individual. For this reason an individual’s appearance
40 (phenotype) may be different from the genetic constitution (genotype).
Unit 1 Introduction to Genetics
• According to Mendel’s law of segregation, during meiosis, the alleles for
each locus separate or segregate, from each other as the homologous
chromosomes separate. When haploid gametes are formed, each will
contain one and only one allele for each locus.

• According to Mendel’s law of independent assortment, during meiosis,

each pair of alleles will segregate independently of the pairs. Alleles at
different loci, therefore, assort randomly into the gametes.

• A cross between homozygous parents (P generation) that differ from

each other with respect to their alleles at one locus is called a
monohybrid cross; if they differ at two loci, it is a dihybrid cross. The first
generation of offspring is heterozygous and is called the first filial or F1,
generation; the generation produced by a cross of two F1 individuals is
the second filial or F2, generation. If a F1 individual is crossed with a
homozygous recessive individual the cross is known as a test cross.

• Mendel first demonstrated that inheritance was based on the

segregation of alleles at a locus. Through self-fertilisation of F1 garden
pea plants, obtained from crosses between plants with different
characteristics, he observed a 3:1 ratio of dominant to recessive
phenotypes in the F2 progeny. The law of segregation developed from
these experiments states that heterozygous individuals produce equal
proportions of gametes containing members of a pair of alleles. Mendel’s
second principle of independent assortment states that alleles at
different loci assort independently of each other resulting in a [Link]
ratio in F2 progeny from a dihybrid cross, and in a [Link] ratio
in a trihybrid cross.

1.6 TERMINAL QUESTIONS

1. Write whether the following statements are True (T) or False (F).

a) Mendel crossed different type of pea plants to blend their

characteristics.

b) Homozygotes have identical alleles for a given trait on homologous

chromosomes.

c) An organism having the genotype Tt makes only one type of

gametes.

d) All organisms with identical phenotypes have identical genotypes.

e) The phenotype determines whether an organism is heterozygous

for that trait.

f) Phenotype determines whether an organism is heterozygous or

homozygous.

g) Any organism displaying a recessive trait must be homozygous for

that trait.

h) A cross between a homozygous dominant tall pea plant and a

heterozygous tall pea plant yields 100% tall plants. 41
Block 1 Heredity and Phenotype
i) The inability for a person to roll his tongue represents a complete
absence of the dominant gene (assuming tongue rolling is the
dominant trait).

j) A cross between a homozygous dominant male and a

heterozygous dominant female would not have any homozygous
recessive.

2. Two long-winged flies were mated. The offspring consisted of 77 flies

with long wings and 24 flies with short wings. Is the short-winged
condition dominant of recessive? What are the genotypes of the
parents?

3. The ability to roll the tongue into almost circle is conferred by a dominant
gene in humans, while its recessive allele fails to confer this ability. A
man and a woman are heterozygous for tongue rolling, and have three
sons. These three sons marry women who are not tongue rollers.
Assuming that each of the three sons has a different genotype, what
proportion of their children might have the ability to roll their tongues.

4. Normal length of fur in rabbit is controlled by the dominant allele R, and

a short type of fur called “rex” is determined by the recessive allele r.
The dominant allele B is responsible for black fur colour; while the
recessive allele b determine brown.

a) Diagram a dihybrid cross between a homozygous rabbit with

normal-length black fur and rex rabbit with brown fur. What are the
phenotypic ration resulting from this cross?

b) What proportion of the normal, black rabbit in the F2 generation of

this cross can be expected to be homozygous for both pairs of
genes?

c) What would be the expected phenotypic and genotypic results of a

back cross between a member of the F1 generation and a fully
recessive rex, brown parent?

1.7 ANSWERS
Self Assessment Questions
1. a) heterozygote, genotype

b) homozygous dominant, genotype

c) heterozygote, genotype

d) phenotype

e) homozygous dominant, genotype

f) heterozygote, genotype

g) homozygous recessive, genotype

h) phenotype

42 i) homozygous recessive, genetype

Unit 1 Introduction to Genetics
2. (a) iv, (b) i, (iii) iii, (iv) ii.

3. Pollen from dwarf plant dusted on the stigma of a tall plant.

4. a) i, (b) i, (c) ii, (d) i, (e) ii, (f) iii.

5. (a) AaBb, (b) AAbb, (c) heterozygous, (d) 2.

Terminal Questions
1. a) False, b) True, c) False, d) False, e) False,
f) False, g) True, h) True, i) True, j) True.

2. When we are not told which of the characteristics is dominant and which
is recessive, we can deduce it from the ratio of phenotypes in the
progeny. We know that 77 flies have long wings and 24 have short
wings. This gives us an approximate ratio of 3 long-winged flies to ever 1
short- winged fly.

77 24 = 3 1

As you know, the three-to-one ratio signifies that dominant and recessive
characteristics are most likely involved. Since there are 3 long-winged
ones, it suggests that short-wingedness is recessive.

The presence of short-winged flies (homozygous recessive) in the

progeny suggests that both parents carry the recessive gene and are
thus heterozygotes.

Let L be the gene for long wings in flies and l be the gene for short
wings. In the cross between two long-winged heterozygous parents:

3. Let us represent the dominant allele for the trait of tongue-rolling by R,

and the recessive allele by r. Only three possible genotypes could result
from the cross of the heterozygous parents. These alleles are RR, Rr
and rr. Let one of the sons be RR, therefore, a tongue roller; the second
son Rr and also a tongue roller; and the third son rr (homozygous
recessive) and thus unable to roll his tongue. All three sons have
married women who are not tongue rollers and who are, therefore, rr.

Let us now determine the proportion of the offspring who will be able to
roll their tongues. 43
Block 1 Heredity and Phenotype

4. (a) First draw the Punnett square of this cross. The genotype of the
homozygous black rabbit with normal fur is BBRR and the
genotype of the homozygous brown rex rabbit is bbrr. The result of
the cross is shown in the figure given below.

Gametes BR Br bR br

BR BBRR BBRr BbRR BbRr

Br BBRr BBrr BbRr Bbrr

bR BbRR BbRr bbRR bbRr

br BbRr Bbrr bbRr bbrr

Summary of F2 phenotypes:

9 Black, long : 3 Black, rex : 3 Brown, long : 1 Brown, rex. This is

an example of a typical dihybrid cross. The ratio [Link] is
expected from all dihybrid crosses involving dominance.

(b) By scanning the above diagram, one can count 9 normal-furred

black F2 rabbits (either BB or Bb of fur colour and either RR or Rr
for fur length, since normal length of fur black colour are dominant
traits); of these only one is homozygous for both traits – BBRR

Total number of normal black F2 rabbits expected = 9

Number of those expected to be homozygous for both traits = 1

44 Ratio = 1:9
Unit 1 Introduction to Genetics
(c) Genotype of F1 member – BbRr

Genotype of brown, rex parent – bbrr

The genotype and phenotypic results of this back cross are:

BbRr × bbrr
↓

Gamete BR Br bR br

br BbRr Bbrr bbRr bbrr

Summary of back cross results : 1 Black, long : 1 black, rex : 1

black, long : 1 brown, rex

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