PRINCIPLES OF ENHERITANCE

5 AND VARIATION

Genetic Terminology (Genetic

1. Character. The term character is
Terms)
used for the featura of the
height, flower colour, type of hair, etc. individual such as stem
Trait.
2
It is an inherited character
such as tall or
or straight hai.
dwarf, purple or white colour of flower,
curly
3. Unit Factor. This term was used by Mendel. It is a
unit of inheritance which controls a trait
of haploid and alongwith another
singly in case factor of similar type in case of
4. Gene. The unit factor of Mendel was called
diploid.
gene by Johannsen in 1909. A gene is the unit
of inheritance which is carried from parent
by a gamete. Gene occurs in a chromosome and
ntrols the expression of a character in cooperation with other
cont
genes and environment. Chemi-
ally gene is a segment of DNA called cistron that has a particular
caly function. One cistron controls
the production of one polypeptide.

5. Symbois
used for Genes. Each trait is
given a symbol. There are two types of conven
tions for aliotting symbols.
() After the Dominant Trait. The first letter of the dominant trait is used in the capital formn
for representing the dominant trait. The recessive trait is then shown with the small letter of the
same symbol, e.g., T for tallness and t for dwarfness.
(i) After the Recessive Trait. The first letter of the recessive trait is used in the small form
as a symbol for the recessive trait. The capital form of this symbol is used for representing the
dominant trait, e.g., d for dwarfness and D for taliness.
6. Alleles (The abbreviated form of the term "allelomorphs" Gr. allelon - of one another).
The term alleles was given by Bateson in 1905. Alleles are slightly different forms of the same gene
which are found at a particular place or locus on homologous chromosomes and control the same
character, e.g., tallness and dwarfness. Now a days the term allele is used for any form of the gene,
similaror dissimilar, e.g., TT, Tt, tt.
7. Locus (pl. loci). A fixed position or place on a chromosome that is occupied by a given
gene or one of its aileles. The alielic genes occupy the corresponding loci in a pair of homologous
chromosomes.
8. Dominant Factor or Aliele. It is one of a pair of alleles which can express itself whether
present in homozygous or heterozygous state, e.g, the factor for tallness in hybrid and homozy-
gous states or Tt and TT.
9 Recessive Factor or Allele. The factor of an allelic or allelomorphic pair which is unable
to express its effect in the presence of its contrasting factor in a heterozygote is called recessive
actor or allele, e.g., the ailele of t in hybrid tall Pea plant Tt. The effect of recessive factor becomes
known only when it is present in the pure or homozygous state, e.g., tt in dwarf Pea plant.

10. Wild and Mutant Alleles (Wild and Mutant Phenotypes). Wild allele is the one which was
dominant and usually widespread. The recessive allele is
onginally present in the population, isformed
eSs Common and is believed to be through mutation of wild allele. It is, therefore, also
called mutant allele.
 BIOLOGY +2
ELEMENTARY
TRUEMAN's
U2 2
Dominant and
Recessive Genes
between
Differences

Recessive Gene/Factor/Trait/All,
Dominant Gene/Factor/TraitAllele

Recessive allele or factor is

1
1. It is able to express itself even in the express its effect in anable to
the presence
recessive allele. dominant allele. of
presence of its

allele to 2. Tt produces its phenotypic effect onlu:

2. It does not require another similar
presence of a similar allele, e.g., tt is the
produce its effect on the phenotype, e.g., T dwarf,
is tall. 3. The recessive allele forms an
Dominant allele or factor
can form complete
defective polypeptide or
enzyme
icomplete.
for expressing its
so
that
polypeptide or enzyme
in Pea. expression consists of absence of the. the
etfects, violet colour of flower
e.g., effect
of dominant allele, e.g., white flower col.
in Pea. olour

genetics,
William Bateson (1861 1926) gave the terms
allele, homozygous, heterozygous, F and F2
The term was in-
11 Homozygote (Homozygous Individual). individual which
troduced by Bateson and Saunders in 1902. It
is an
contains identical alleles of a gene or factors
of a character on its
homologous chromosomes. The homozygote is pure for the charac
ter and breeds true, that is, it gives rise to offspring having the same
trait on self breeding, e.g., TT or tt. It is of two types, homozygous
dominant (e.g., TT) and homozygous recessive (eg, t).
12. Heterozygote (Heterozygous Individual; Bateson and
Saunders, 1902). It is an individual which contains the two
contrasting factors of a character or two different alleles of a
William Bateson
gene on its homologous chromosomes. It is not pure and is
called hybrid for that character. Heterozygote does not breed true on self fertilization, e.e.
T.
13. Hybrid. The heterozygous organism produced after crossing two genetically differ
ent individuals is called hybrid. The process of obtaining hybrids or hybridisation is employed
to improve the quality of economically important plants and animals as it combines the useful
aits of different varieties. The harmful effect of recessive traits disppears as the dominant
traits of all the characters of the parents often come together in the hybrid. As a result the
hybrid possesses qualities better than either of the parents. It is called hybrid vigour or
heterosis. Depending upon the number of characters in which parents differ from each other,
there may be monohybrids (one character), dihybrids (two characters),
etc.
trihybrids, polyhybrids,
Differences between Homozygous and
Heterozygous Individuals
Homozygous Individual
Heterozygous Individual
1 It is pure for a trait and breeds true, i.e., 1. Heterozygous individual is seldom pure and
gives rise to similar homozygous produces offspring with different genotypes
individuals.
onselfing,e.g., TT, Tt and tt on selfing of Tt
2. Both the alleles of individuals.
a character are similar, 2 It carries dissimilar alleles,
eg, TT, tt e.g., Tt.
 PRINCIPLES OF INHERITANCE AND VARIATION 3 U2
sar erceser

Homozygous individuals can carry either 3.

3. H
but
Heterozygous individual has both dominant
or recessive alleles not both. and recessive alleles.
dominant
type of gametes.
one 4. Itproduces two types of gametes.
I t produces
not show extra vigour. 5. The individual can show extra vigour called
I t does
hybrid vigour or heterosis.

A F . Generation. F or first filial (frilus- son, ila-daughter; Bateson, 1905) generation is the
of hybrids produced
from a cross between the genetically different individuals called
eration
gene For example, Tt individuals are produced in F generation from a cross between TT and t
parents, F

p a r e n t s .

E Generation (Bateson, 1905). F2 or second filial generation is the generation of individu-

15
h arises as a result of inbreeding or interbreeding amongst individuals of F generation.
als
wh
16.
Genotype (Gk. genos-race, typos- image; Johannsen, 1911). It is the gene complement
16
nenetic Constitution of an individual with regard to one or more characters irrespective of whether
o rg e n e

or not. For example, the genotype of hybrid tall Pea plant is Tt, pure tall TT
enes are expressed
the
and dwarf tt.

7 Phenotype (Gk. phainein-

structural
to
or
appear, typos- image; Johannsen,
functional characteristic of
1911). It is
observable
individual with regard to
an
or
one or
aaSurable distinctive environment.
ro characters which is a result of gene products brought to expression in a given
more
of a plant, colour of flower) or may require
The characteristic may be visible to eye (e.g., height
checial test for its identification (e.g., serological test for blood group). For recessive genes, the
For dominant genes, the phenotypic expression can be due
to its
ohenotype is similar to genotype. tall Pea plant can be
or heterozygous genotype. For example, phenotypic
homozygous genotype
genotypicaly TT
or Tt.

Differences between Genotype and Phenotype

Genotype Phenotype
of gene
individual. 1. It is the external manifestation
1. It is the gene complement of an product brought to expression.
2. Phenotype may change with time, e.g.
Genotype remains the same throughout the
2.
life of an individual.
infant, adolescent, young and old.
direct
It can 3 Phenotype can be known through
3. Genotype cannot be studied directly. observation.
be known through the study of
ancestors,

mating and offspring establishes the boundaries within

4. Genotype
4. It is not influenced by phenotype. which a phenotype can be expressed.
phenotypes
Individuals with similar may not
individuals 5.
In given environment or time,
a
similar belong to same genotype.
With similar genotypes will produce
phenotypes. 6. Individuals with different phenotypes
6. Individuals with different genotypes may have different genotypes.
tallness for TT usually
have similar phenotype, e.g.,
change with
and Tt. 7. Phenotypic expression
can

7. It is not influenced by environment. change in environment.

chromosome is
chromosomes where every gene and
18, complete set of
Genome. It is a in haploid cells, two genomes
in
A single genome is present
Epresented singly as in a gamete.in polyploid cells.
ploid cels and many genomes present in an interbreeding
and their alleles
of all the genes
Gene Pool. The aggregate
.
Population is known as gene pool.
 U2 4 TRUEMAN's ELEMENTARY BIOLoGY +2

cross of the same genotypes in which the

20. Reciprocal Cross. A second cross. The cross AA (9)
sex
of
generation are reversed, is called reciprocal xx
aa ($) the
parental is
reciprocal of the cross aa (9) x AA (d). the
21. Punnett Square. It is a checkerboard or square dividedinto smaller squares:
thefigure 5.1. It was developed by a British geneticist
Punnett (1927) and is knc
known after h shown in
as Punnett square. It is a graphical representation to calculate the probability of all DOee nam
types of offspring in a genetic cross. Thee possible gametes are written on two sides sible geno-
(horizontal row) and left column (vertical column). Usually male gametes are written in tothe top row
female gametes in left column. All possible combinations are represented in boxes belowan
Squares. Thus various types of phenotypes and genotypes are obtained. the

Tall Dwarf
TT X tt
Parents

Gametes

Gametes )
Tt Tt
Fy generation All Hybrid Tall
Tt Tt

Hybrid Tall
Tt X Hybrid Tall
Tt
Selfing

Gametes
O
Gametes
TT
F2 generation
Pure TallHybrid Tall All Hybrid Tall
Tt tt
Hybrid Tall Pure Dwarf
Phenotypic Ratio Tall Dwarf
3 1
Genotypic Ratio: PureTall: Hybrid Tall:
2
Pure dwarf
1
Fig. 5.1. A Punnett square used to understand a t
pical monohybrid cross.
22. Pollen. The young male
23. Stamens. These are gametophyte of a plant, surrounded the
male reproductive by microspore wall.
filament and anther. organs of a flower. Stamen consists of two
24 Pistils. These are female
parts
stigma, style and ovary. reproductive organs of
Sttgma recelves a flower. Pistil consists of
pollen grains during three paris
25. Emasculation.
nation in these flowers
The
removal of stamens from bisexual polination.
during hybridization flowers in order to avoid
26.
Syndrome. A group of self-poul
symptoms that occur together and
represent a particular dise
 RINCIPLES OF INHER TANCE AND VARIATION 5 U2
27. Back
rosS. The cross of an
F, hybrid with ww.wswwwm

one of the two

re are two possibilities. parents is called backcross. In
Such c a s e s

(A) In
n
o ne nossibility,
e possibilit there is cross between
F, hybrid (Tt)
plants
plants will be 100% tall (Fig. 5.2 A). and dominant parent (TT). In
cross,

ch a
Sucha second possibility, there is cross between F,
plants will be 50% tall and 50% dwart (Fig. 5.2 hybrid
(B) (Tt) and recessive parent (tt). In
such cross,
B).
Fi Hybrid Dominant P
X TT F Hybrid Recessive
Tt
Tt X tt

Gametes Gametes
Gametes Gametes

O
TT TT Tt Tt
Tall Tall Tall Tall
Tt Tt tt tt
Tall Tall Dwarf Dwarf

100% Tal 50% Tall 50% Dwarf

(A) (B)
Fig. 5.2. Backcrosses of F, monohybrids with parental types.

In plant breeding back cross is performed a few times in order to

Use of Back Cross. in order to
increase thee traits
of that parent. For example, a crop plant is crossed with a wild variety
resistance. In the process most good traits of the crop plant get
diluted. The
obtain its disease traits
crossed with parent crop plant in order to transfer the good
hybrid is, therefore, repeatedly
back into it.
between an individual of unknown genotype and recessive parent is
Test cross. A cross
28
called test cross.

Unknown Recessive P
Unknownn Recessive P
Genotype tt
Genotype X tt Tt
TT

Gametes Gametes
Gametes
Gametes

6 Tt Tt
Tt
Tall
Tt
Tall
Tall Tall tt tt

Tt Tt DwarDwarf Dwarf
Tall Tall
50% Tall 50% Dwarf
100% Tall
(B)
(A) dominant (B) with recessive parent.
dominant (A) and hybrid
between pure
ig. 5.3. Testcrosses
 BIOLOGY
+2
ELEMENTARY

TRUEMAN's
U2 6
crosSs.
of such a is crossed with a p
There two possibilities genotype plant
are
ure recessiv
When pure
dominant (TT) of unknown be tall as in the mal monohybrid
normal
(A) 100% plants will cross (Fig,
parent plant (tt),in such a cross,
5.3 A). unknown genotype
is crossed with a .

Dure recessive
When hybrid dominant (Tt) plant of tall and 50% plants
will be dwat like
(B)
(tt) parent plant, in such cross 50% plants will
be
backcross
(B) it is used to test whether an:
an individu is
testcross because
Use of Test Cross. It is called test for linkage.
It is als0 used as
(hybrid).
homozygous (pure) or heterozygous
types-Monohybrid and Dihybrid, A m . monoh ri
Types of Testcross. Testcross is oftwo each A
deals with single trait and gives F,
phenotypic ratio of 1:1, i.e., 50%
test cross time and gives phenotypic ratio of 1: 1: 1 1 Y
F,
testcross deals with two traits ata ,25
each.
29. Monohybrid Cross. It is a cross between two organisms of a species which is mad..
of a character. to
study the inheritance of a single pair of alleles or factors
30. Monohybrid Rato. It is a ratio which is obtained in F generation when a monohvg
cross is made and the offspring of F, generation are selfbred. Mononybrid ratio is usuallya
:1
(phenotypic ratio) or 1:2:1 (genotypic ratio) in which 25% of the individuals carry the recessi
trait, 25% pure dominant and 50% have hybrid dominant trait.
cessive
31. Dihybrid Cross. It is a cross between two organisms of a species which is made to study
the inheritance of two pairs of factors or alleles of two
genesS.
32 Dihybrid Ratio. It is a ratio which is obtained in the F2 generation when a dihybrid cross is
made and the offspring of F, generation are self-bred. Dihybrid ratio is 9:3:3:1
where 9/16 individuals carry both the dominant traits, 3/16 first dominant and second (phenotypic ratio
16 first recessive and second dominant
and 1/16 carry both the recessive recessive, 3
traits.
33. Trihybrid Cross. It is
between the two individuals of a
a cross
itance of three pairs of factors
alieles belonging to three different
or species for studying inher-
genes.
34. Trihybrid Ratio. It is the
ratio obtained in
inggenes are studied. F2 generation when three independently assort
are There eight phenotypes
in the ratio of
35. Gene Interaction. It 27:9:9:9:3:3:3:1.
is the influence of an alele over another
gene that results in change of its allele of the same or diferem
expression,
types:- (G) Intragenic (Interallelic) phenotype or normal
other than dominance Interaction. The alleles of the mendelian ratio. It is of two0
recessive,-

same gene have an

interact0
pleiotropy. (i) Intergenic (Nonallelic)e.g, incomplete dominance, codominance,
new Interaction.
expression, e.g., supplementary genes, Alleles of different multiple aliees
lethal genes, genes interact to produce a
duplicate genes. complementary genes, epistasis, inhibitory gene
36 Pure Line. The term
was
was discovered. Pure line is the coined by Johainsen
of pure line are progeny of a single, in1900, the same year Mendel's paper
express the same
homozygous for
one or more homozygous self polinated plant. Me
these organisms are
effect. Such characters.
characters do not show In
homozygous form both tne alleles
said to breed any
because several of the true. Natural change on continued ence,
continued defective pure lines do selfing.
Pure lines genes
seltbreeding. also occur in not produce
vigorous
available homozvgous state or become due to
by plant breeding of all the
centres for one varieties so
content, disease or more
important of
resIstance,
They are used for cross size, numberuseful homozygous plants are
breeding in order to flowers, numbercharacters
of like grain tent
get the of colo,
seeds, tillers, root etc.
desired
improvement in crops. sys
 PRINCIPLES OF INHERITANCE
VARIATION 7 U2AND
Mendel's Mode
l's Mode of
Calculations.
37.
For example, Mendel used algebraic methods
inbreeding
combinations.
of ods for calculating
cal the ex-
then their random
and then thei hybrid (say Aa) involves
e gametes
the hv fusion:
hybrid (say Aa) is crossed(A+a) (A+a) or x separation of its factors
with recessive (A+a)2 or AA+2 Aa +aa. Similarly,
the
Cross
test
a
in
(A+a)xa or Aa+aa.
parent (aa). The cross will result in
Theory of Probat ability. () Out of the two
of
38.
ch one of them is 50%. alternate events, the probability of occurrence of
() Two events are independent
probability af
of oco if occurrence of
occurrence of the other. (in) The
probability of joint occurrence ofdoes
one not affect the
oroduct of their individual probabilities. two independent
dent pathways, the probability of its (iv) For an event which can
two independent

occurrence is thesum of
happen through
afspring or siblings" are the separate probabilities.
39.
ble their parents,
product sexual reproduction and
of
origin. They resemble
commonly biparental in
family, tribe, race, variety and
them to belong to their particular species sufficiently that one can
recog 7vaotic twins are genetically alike.grouping. However, this resemblance
Only mon0zygotic is never 100%.
hwins, possess genetic variations. ThisOtherwise
is
children of the same
parents, including
bizygoogeny is monoparental or derived from anotsingle true for
asexually reproducing organisms.
Here the progeny forms a uniform parent through the process of mitosis.
population.
AS of the parent. These individuals which are It possesses exact
copies of genetic charac
carbon copies of one another and/or the parent
called ile
ramets while the group of such individuals is known
are
as clone. Identical twins are
clones of each other. They are, of course,
offspring of their
also
parents.
Differences between Clone and
Offspring
Clone Offspring
1. It is monoparental or derived from a single 1. An offspring is biparental or formed from
parent. two parents.
2. Clone is product of asexual reproduction. 2. Offspring 18 a product of sexual
reproduction.
3. It does not involve gametes. 3. It involves the formation and fusion of two

Meiosis does not occur. Clone is a product

gametes.
4 4. Meiosis occurs prior to the formation of
of mitosis. gametes.
5. There is no recombination of genes. 5. There is a chance segregation and chance
recombination of genes during the formation
of an offspring.
6. Ramet or individual of a clone does not Offspring differs in the genetic constitution
differ in the genetic constitution from its from either of its parents. It is neither
parent. Rather it is the carbon copy of the intermediate between the two because some
latter. of the genes present in it might not have
found expression in the parents.
7. Members or ramets of a clone have the 7. Offspring of the same parents or siblings
same genotype. differ in their genotypes.

40. Species. A group of organisms capable of interbreeding to produce fertile offspring.

41. Antigen. A substance usually protein or polysaccharide molecule usually induces spe-
cific antibody production.
42. Antibody. A protein in a tissue or fluid of the body, produced in response to the presence
01 Some foreign substance, protects the organism against antigen.

Siblings are offspring of the same parents but at ifferent births, e.g., brothers and sisters.