Principles of Inheritance and Variation Min
Principles of Inheritance and Variation Min
and Variation
INTRODUCTION
y The branch of biology that deals with the Definition
inheritance of character from parents to offspring
is called as genetics. The word genetics was Heredity: The process by which
coined by William Bateson. the characters are transferred
y The word ‘heredity’ is taken from hereditus from the parents to the
meaning heirship. It deals with the inheritance of offspring .
similar characters from parents.
y The question of how offsprings resemble their
parents in some characters leads to the detailed
study of the organisms at the genetic level.
y Aristotle pointed out that the concept proposed
by Pythagoroas was not correct. He said that
only the sperms do not carry the information to
the offsprings but the male and female pass on
information to the offsprings.
1.
y Flowers of pea plants remain closed till pollination.
y It showed seven pairs of contrasting characters. Previous Year’s Question
Definition
2.
y Self and cross-pollination both were possible in
the plant. Definition
y It had a short life cycle.
y Pure line varieties were present. Homozygous: The organism
having two identical allele for
INHERITANCE OF ONE GENE a particular gene expressing a
y Mendel took tall and dwarf plants and made character.For example,TT, tt
them cross and the seeds available after the
cross were planted.
y All the seeds that were planted grew into tall
plants. These plants were called the F1 generation
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or first filial generation.
y He took plants from the F1 generation and made
At which stage of meiosis does
them to self-pollinate. The seeds obtained from
the segregation of Mendelian
them were again planted.
factors can be seen under
y The seeds gave rise to a new generation known
observation?
as the F2 generation i.e., second filial generation.
y Some of the plants of F2 generation were tall,
some were dwarf. The 1/4th of the plants were
tall, 3/4th of them were tall. Only one parental
trait was expressed in F1 generation and both the Previous Year’s Question
traits expressed in F2 generation.
y If we use alphabets for each, then ‘T’ is the allele In organism with two identical
that controls tall trait and ‘t’ is the allele that alleles is
controls dwarf trait. Gene for homozygous tall (1) dominant
can be represented as ‘TT’ while dwarf can be (2) hybrid
represented as ‘tt’. (3) heterozygous
y The F1 generation that was obtained was (4) homozygous
heterozygous (Tt). These plants were
phenotypically tall like the parent with gene TT.
3.
y Mathematically he calculated that in F2 generation
¼ tall plants were with genotype TT while 1/2 Rack Your Brain
were Tt and ¼ were tt. But Tt and TT were tall,
so phenotypically ¾ of the plants were tall while In sexually reproducing organisms
the only ¼ of them were phenotypically and what is the contribution of the
genotypically dwarf. parents to their offspring ½ of
y The phenotypic ratio was calculated to be ¾ of their genes or ¼ of their genes?
tall : 1/4 of dwarf i.e., 3 : 4.
y The genotypic ratio was calculated to be ¼ : 1/2 :
1/4 (TT : Tt : tt), i.e 1 : 2 : 1.
y Mendel concluded all this with the help of Punnett Definition
square. The cross explained is a monohybrid cross
as inheritance of only one trait is considered at Phenotype: The individual
one time only. having two dissimilar allele of a
geneexpressing a character. For
example Tt,
(4) Four
Definition
Genotype: The genetic
constitution of the phenotype
of an organism.For example,TT
and Tt are the genotype for the
character height.
4.
Previous Year’s Question
5.
y F2 generation obtained after self-pollination gave
genotypic ratio as 1 : 2 : 1 ratio of pure and hybrid Definition
forms.
Law of Dominance: Discrete
units called factors occur in
Interpretation of Mendel’s Results
pairs and control characters.
y Mendel said that factors are transmitted from
In dissimilar pair of factors one
parents to offspring. Each factor contains
member of the pair dominates
information about the form of a trait.
and thus is the dominant factor
y The Principle Law of Dominance: If a cross is
while the the other is the
conducted between two characters of parents
recessive factor.
then the character that appears in F1 generation
is called dominant and the suppressed one which
appears in F2 generation is called recessive.
Law of Segregation
y It states that the alleles remain together but Previous Year’s Question
segregate at the time of gamete formation.
y The alleles T and t segregate at the time of Which one of the following
gamete formation and when the gametes fused cannot be explained on the basis
the recessive trait appeared in F2 generation even of Mendel’s law of dominance?
when it was absent in F1 generation. (1) The discrete unit controlling a
particular character is called
Reasons for Mendel Success a factor.
y Mendel organised his experiments methodically, (2) Out of one pair of factors one
obtained observations systematically and is dominant, and the other
analysed the obtained data mathematically. recessive.
y He selected garden pea plant which is bisexual (3) Alleles do not show any
and self-pollinated them. blending and both the
y He obtained pure breeds of each character. characters recover as such in
y He studied the offspring of not only the first F2 generation.
Principles of Inheritance and Variation
generation but also the second generation. (4) Factors occur in pairs.
y Mendel studied inheritance of seven different
pairs of contrasting characters in garden pea.
y He counted the offsprings after each cross and
then analysed the results mathematically.
Definition
y He organized his data in such a way that his
results could be evaluated simply and objectively. Law of Segregation: It states
that the alleles remain together
INHERITANCE OF TWO GENES but segregate at the time of the
y Mendel studied the inheritance of two traits at a gamete formation.
time. Such a cross where inheritance of two traits
6.
is studied simultaneously is known as dyhybrid
cross. Previous Year’s Question
y He crossed plants having Round and Yellow seeds
with plants having Wrinkled and green seeds. Cross between AaBB and aaBB
y The plant with Round and yellow seed was will form
represented by RRYY and the one with Wrinkled (1) 1AaBB : 1aaBB
and green seed was represented by rryy. (2) all AaBB
y The F1 generation consisted of round and yellow (3) 3AaBB : 1aaBB
seeded plants. (4) 1AaBB : 3aaBB
y F1 generation when self-pollinated lead to the
formation F2 generation which consisted of
Round yellow, round green and wrinkled yellow
and wrinkled green seeded plants in the ratio
9:3:3:1. Definition
y Consider the segregation of one pair of genes
Law of Segregation: When
RRYY rryy. Fifty per cent of the gametes have the
inheritance of two or more
gene R and the other 50 per cent have r gene.
characters is tsudied
Besides this, allele Y and y also need to segregate.
simultaneously, the alleles
y Fifty percent of the gametes have Y gene while the
segregate independent of each
other fifty percent have y gene. The segregation R
other.
and r is independent of Y an y gene.
y 50 per cent of the r genes bearing gametes have Y
gene and the other 50 per cent genes have y gene
and 50 per cent gene of the R bearing gametes
have Y gene and the other 50 per cent have y
gene. Previous Year’s Question
y There are four genotypes of gametes-RY, Ry, rY
Phenotype of an organism is the
and ry each with a frequency of 25 per cent or
result of
1/4th of the total gametes produced.
(1) genotype and environment
7.
Previous Year’s Question
(1) 9 : 3 : 3 : 1
(2) 2 : 1 : 1 : 2
(3) 1 : 2 : 2 : 1
(4) 7 : 5 : 3 : 1
8.
9.
Principles of Inheritance and Variation
TEST CROSS AND BACK CROSS
y In genetic it is important to find out the genotype Previous Year’s Question
of the parent involved in the cross.
y This can be don by back cross or test cross. A common test to find the
y A cross where F1 progeny is crossed with either of genotype of a hybrid
the parents is called back cross. is by
y F1 X TT (dominant parent) (1) crossing of one F2 progeny
y F1 X tt (recessive parent) with female parent
y A cross where the F1 progeny is crossed with (2) studying the sexual behaviour
recessive parent (homozygous) to test the of F1 progenies
homozygosity or heterozygosity of the parent is (3) crossing of one F1 progeny
called test cross. with male parent
y The progeny in F2 will be produced in the ratio of (4) crossing of one F2 progeny
1 : 1 (i.e., 50%). with male parent
y Test cross is used for determining whether the
parent plants in the cross are pure for the traits
under study.
y In genetic it is important to find out the genotype
of the parent involved in the cross.
y This can be don by back cross or test cross.
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y Example-
⚪ If we want to determine the genotype of a
Give the genotypes of the parent
violet flower pea plant then it can be crossed
pea plant in a test cross ,when
with the dominat parent or the recessive
all the progeny were bearing
parent
violet flowers
Principles of Inheritance and Variation
10.
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11.
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12.
chromosome produce modified phenotype.
y It is of the following type-
Previous Year’s Question
⚪ Incomplete dominance
⚪ Multiple Allelism F1 hybrid is intermediate
⚪ Coodominace between the two parents.This
y Intergenic Interaction-The genes are present on phenomenon is
different chromosomes and produce a changed (1) dominance
phenotypic effect. (2) blending inheritance
y It includes- (3) codominance
⚪ Epistatic gene (4) incomplete dominance
⚪ Dupliacte gene
⚪ Complementary gene
⚪ Supplementary gene
Previous Year’s Question
INCOMPLETE DOMINANCE
y The inheritance in which the alleles occupying A monohybrid cross between
the same position on homologous chromosome two plants.one having 24 cm
express themselves partially when present long internodes and other
together in a hybrid is known as incomplete having 12 cm internodes and the
dominance. other having 12 cm internodes
y The F1 individuals have the characters produced F1 hybrids all having
intermediates to the characters of the parents in 18 cm long internodes.This is a
this type of inheritance. case of
y For example- In Snapdragon (Antirrhinum majus) (1) Multiple allelism
a cross between red-flowered plant and a (2) Complete dominance
white-flowered plant produces pink-flowered (3) Recessive dominance
plants in F1 generation. (4) Incomplete dominance
y On selfing these F1 plants give red, pink and
white-flowered plants in F2 generation in the
ratio of 1 : 2 : 1
13.
Explaination of Dominance
y A pair of alleles is present in a gene and in a Rack Your Brain
diploid organism during gamete formation the
two alleles segregate out. Which idea is depicted by a
y The two alleles present may be cross in which the F1 generation
identical(homozygous) or not identical resembles both the parents?
(hetezygous).
y Let us consider that the alleles produce an
enzyme needed for the transformation of the
substarte S.
Previous Year’s Question
y Mutation may occur and one of the allele may get
modified and the muatated allele may produce “Gametes are never hybrids’’ This
the following - is the satement of law of
⚪ the normal or less efficient enzyme (1) dominance
⚪ a non-functional enzyme (2) segregation
⚪ no enzyme at all (3) random fertilisation
y In case where the normal or less efficient enzyme (4) independent assortment
is produced,the modified allele produces the
same effect as the unmodified allele and thus
transform the substrate S.
y In the case when the allele produces a non
functional enzyme or no enzyme,the substrate Previous Year’s Question
will not be transformed and hence the phenotype
The genes controlling the seven
will be affected.
pea characters studied by
y The unmodified allele is the dominant allele
Mendel are now known to be
while the modified allele is the recessive allele.
located on how many different
y Thus the the recessive trait is due to non-
chromosomes?
functional enzyme or because no enzyme is
(1) 4 (2) 7
produced.
(3) 5 (4) 6
Principles of Inheritance and Variation
14.
Previous Year’s Question
15.
Previous Year’s Question
16.
y Sugar polymers protrudes from the surface of
plasma membrane of the red blood cells and The
formation of sugar is controlled by the gene.
y The gene I has three alleles IA, IB and i.
y IA and IB are completely dominant over i
y A’ blood group have ‘A’ type of glycoproteins
(a-antigen).
y ‘B’ type blood group have ‘B’ type glycoprotein
(b-antigen)
y ‘AB’ have both types of antigens whereas ‘O’
group do not have any glycoproteins on RBC.
y Thus, six genotypic combinations are possible
with three alleles.
17.
Codominance
y In ABO blood group, both IA and IB are dominant
over ‘i’. As the person with genotype IA and IB
produces both antigens; the allele IA or IB are
called as codominant and are expressed as AB.
y All cases of multiple allelism need not to be
codominant. Previous Year’s Question
18.
y The starch synthesis shows incomplete
dominance while the seed shape shows Previous Year’s Question
dominant recessive inheritance pattern.
Pleiotropic gene
(1) inhibits crossing over
(2) promotes crsooing over
(3) controls only one phenotype
(4) controls several phenotype
19.
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20.
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21.
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22.
y Sickel cell Anaemia is also an example of
pleitropic gene.In this the person with Definition
genotype HBsHBS produced sickel celled red
Polygenic Inheritance:The
blood cells and also there is damage to the
inheritance in which more than
internal organs of the person.
one gene controls the expression
y Disease phenylketonuria, which occurs in
of a single trait.
y humans is also an another exaple of pleiotropic
gene.
y The disease is caused by mutation in the gene Previous Year’s Question
that codes for the enzyme phenyl alanine
hydroxylase. A gene is said to be dominant if it
y Due to the mutation of the gene the person (1) never expresses in any
shows mental retardation and a reduction in condition
hair and skin pigmentation. (2) it expresses only in
heterozygous condition
POLYGENIC INHERITANCE (3) it expresses its effect only in
y If more than one gene controls the expression homozygous condition
of a single trait then they are known as (4) it expresses both in
polygenic genes. heterozygous and
y The inheritance of a trait is called quantitative homozygous condition
inheritance or multiple factor inheritance or
polygenic inheritance (AA, BB, CC).
y Example- Height in humnas.In humans we
Previous Year’s Question
just do not have tall and short but a whole Which one of the following traits
range of different heights. of garden peastudied by Mendel
y The inheritance of skin colour in man (aa, bb, is a recessive trait?
cc). (1) Green pod colour
y The skin pigmentation is determined by three (2) Round seed shape
two pairs of alleles. (3) Green seed shape
y AABBCC and aabbcc (4) Axial flower position
Principles of Inheritance and Variation
y The genotype aabbcc expresses very light
skin colour .
y The genotype AABBCC expresses very dark Previous Year’s Question
skin colour.
y The effect of the other different combination The phenotypic ratio obtained
of the allleles is additive. in quatitative inheritance of a
y The effect of all the genes is additive. dihybrid cross is
(1) 1:2:1
(2) 9:3:3:1
(3) 1:4:6:4:1
(4) 1:6:15:20:15:6:1
23.
Principles of Inheritance and Variation
24.
TABLE : NON MENDELIAN INTERGENIC GENE INTERACTION
25.
CHROMOSOMAL THEORY OF INHERITANCE
y Walter Sutton and Theodore Boveri noted that
the behaviour of chromosomes was parallel to
the behaviour of genes and used chromosome
movement to explain Mendel’s laws.
y The important things to remember are
that chromosomes as well as genes occur Previous Year’s Question
in pairs. The two alleles of a gene pair are
located on homologous sites on homologous Chromosomal Theory of
chromosomes. inheritance was based on
y Chromosomes as well as genes occur in pairs. (1) sex linkage
y The two alleles of a gene pair are located (2) segregation of genes
on homologous sites on homologous (3) diploidy and haploidy
chromosomes (4) presence of sex chromosome
y The chromosomes segregate at the time of
gamete formation and along with them the
alleles present on the chrosomosomes also
segregate out .
Principles of Inheritance and Variation
26.
LINKAGE AND RECOMBINATION
y T.H. Morgan conducted experiments with
Drosophila (fruit fly) to show that genes are
located on chromosomes.
y He selected Drosophila melanogaster for his
experiments due to following reasons:
y Drosophila has only 4 chromosomes.
y Life cycle is short of Drosophila.
Principles of Inheritance and Variation
y A large number of progenies may be produced in
one mating only.
y Easy laboratory conditions are sufficient for
experiment.
y Each cell of Drosophila consists of four pairs of
chromosomes. They all are different in size.
y Out of four pairs, three are autosomes and similar
in males and females. The fourth pair is allosome
or sex chromosome.
y T.H. Morgan conducted following experiments
(crosses) on Drosophila (normally red-eyed).
27.
y Cross A-He crossed yellow- bodied and white
eyed female with brown -bodied,red eyed
male(wild type) .
y The F1 progeny was intercrossed.The result did
not follow the mendelian ratio of a dihybrid cross
i.e 9:3:3:1.
y The parental combination were 98.7% and
recombinats were 1.3%.
y He again conducted across between crossed
white-bodied female having miniature wings with
yellow-bodied male with normal wings(wild type).
y The parental combination were 62.8% while the
recombinants were 37.2%.
y Morgan knew that the genes were located on
the X chromosome and understood that when
the two genes in a dihybrid cross were situated
on the same chromosome, the proportion of
parental gene combinations were much higher
than the non-parental type.
y He described such an association between
two genes that expresses more of the parental
characteristics as linkage.
y Thus he concluded from the two crosses that
to genes body colour and wings size are loosly
linked and thus, more crossing over and more
number of recombinants.
Complete Linkage
y In this process, two or more genes on a
chromosome are close to each other and inherit
together in the next generation. In this process,
there is no crossing over between the genes.
28.
Incomplete Linkage
y In this process, the genes are not too close Previous Year’s Question
to each other and a little crossing over takes
place between the genes. They segregate and Bateson and Boveri have given us
are inherited independently, and thus, a new (1) Multiple allelism
type of combinations are produced in the (2) Chromosomal theory of
successive generation. Inheritance
(3) Polygenic Inheritance
Linkage Group and Linkage Map (4) Law of Dominance
Linkage group
y The group of linked genes inherited together
in the progeny is called linkage group. Previous Year’s Question
y Each linkage group is related to a particular
chromosome. Number of linkage groups in
y In Drosophila, there are 4 pairs of Pisum sativum is
chromosomes, so, 4 linkage groups in man, (1) 2 (2) 5
there are 23 linkage groups. (3) 7 (4) 9
Linkage map
y The frequency of crossing over between the Previous Year’s Question
two genes is directly proportional to the
relative distance between them. Morgan and The genes of different traits
Sturtevant proposed “let 1% crossing over located on different loci on the
(recombination) be equal to 1 map unit”. same chromosome are
y Alfred Sturtevant used the frequency of (1) alleles
recombination between gene pairs on the (2) linked
same chromosome as a measure of the (3) mutated
distance between genes and he also mapped (4) pleiomorphic
their position on the chromosome.
y Genetic maps have been used in th esequence
29.
y The studied on some insects lead to the
understanding of genetic/chromosomal Previous Year’s Question
mechanism of sex determination.
y Henking found a nuclear structure during There are three genes a, b, c.
spermatogenesis of a few insects. He also found Percentage of crossing over between
out that 50 per cent of the sperm received this a and b is 20%, b and c is 28% and
structure after spermatogenesis while the other a and c is 8%. What is the sequence
50 per cent sperm did not receive it. of genes on chromosome?
y He called the structure as the X body but he (1) b, a, c
could not explain its importance. (2) a, b, c
y Later some scientists found out that the ‘X body’ (3) a, c, b
was in fact a chromosome of sex determination (4) None of these
and was named X chromosome.
y In Bonnelia the larvae do not have any sex.The
larva which grows in the mud matures into female Previous Year’s Question
while the larva that develops near the proboscis
of female develops into male. Pick out the correct statements.
Autosomes and Allosomes (a) Haemophilia is a sex-linked
y The chromosomes other than sex chromosomes recessive disease.
in body cells (diploid) are called autosomes. (b) Down’s syndrome is due to
y The sex chromosomes which are morphologically aneuploidy.
different and are associated with sex (c) Phenylketonuria is an
determination are called allosomes e.g. X and Y. autosomal recessive gene
disorder.
Heterogametic and Homogametic Organisms (d) Sickle cell anaemia is an
y The individual having two morphologically X-linked recessive gene
different sex chromosomes and producing two disorder.
types of gametes is called heterogametic (XY). (1) (a), (c) and (d) are correct.
y The individual having two morphologically similar (2) (a), (b) and (c) are correct.
sex chromosomes and producing all gametes of (3) (a) and (d) are correct.
Principles of Inheritance and Variation
the same type is known as homogametic (XX). (4) (b) and (d) are correct.
XY Type
y In Drosophila and mammals the males have XY
sex chromosome while the female have XX sex Previous Year’s Question
chromosome.
Genetic identity of a human male
y The males are heterogametic as half their
is determined by
gametes have X and the other half have Y sex
(1) sex-chromosome
chromosomes.
(2) cell organelles
(3) autosome
(4) nucleolus
30.
y The female is homogametic as all her gametes
contain only one X sex chromosome. Rack Your Brain
31.
y During pregnancy there is always 50 per cent
probability of either a male or a female child. Previous Year’s Question
y But in India in some places female is blamed for
the birth of a girl child. The males of grashopper and bugs
possess two sets of autosomes
“XO” Type and
y This type of chromosome is found in certain (1) only Y-chromosome
insects and roundworms. It is produced due (2) only X-chromosome
to non-disjunction of chromosomes during (3) Xand Y chromosome
meiosis and then the egg is fertilised by a sperm (4) Neither X nor Y chromosome
lacking X-chromosome (Male having only one X
chromosome i.e., XO and the female having two
X-chromosomes).
Previous Year’s Question
Definition
32.
have one Z and one W chromosome, whereas
males have a pair of Z-chromosomes besides the Previous Year’s Question
autosomes.
y The female is heterogametic as half the gametes Sex chromosomes of a female
produced have Z sex chromosome and half the bird are represented by
gametes have W sex chromosome. (1) XO (2) XX
y The male is homogametic as all the gamertes (3) ZW (4) ZZ
have only Z sex chromosme.
33.
y Egg is produced by meiosis while the sperms are
produced by mitosis.
Previous Year’s Question
y When an egg fuses with the sperm a female
y (queen or worker) is produced and an unfertilised
Thalasemia and sickle cell
egg develops as a male (drone).
anaemia are caused due to a
y Male do not have father and thus cannot have
problem in globin molecule
sons, but they have a grandfather and can have
synthesis. Select the correct
grandsons.
statement.
(1) Both are due to a quantitative
defect in globin chain
synthesis.
(2) Thalassemia is due to less
synthesis of globin molecules.
(3) Sickle cell anaemia is due
to a quantitative problem of
globin molecules.
(4) Both are due to a qualitative
defect in globin chain
synthesis.
Causes of mutations
Previous Year’s Question
y Mutations can be caused by different agents and
they are known as mutagens.Mutagens can be In humans,the key factors in sex
physical or chemical. determination is
y Physical mutagens like high temerature and (1) Y chromosome
radiations like UV rays,alpha,beta and gama (2) X chrpomosome
rays,X-rays. (3) Both (1) and (2)
y Chemical mutagens like mustard gas and nitrous (4) None of these
gas.
34.
Types of Mutation
y Point Mutation (gene mutation)-Due to a change Previous Year’s Question
in the structure of a gene. This type of mutation
normally alters the information conveyed by a
Which one of the following
gene; it alters its message.
conditions in humans is correctly
y In this there is mutation in only one nitrogenous
matched with its chromosomal
base of the triple codon and thus known as point
abnormality/linkage?
mutation.
(1) Erythroblastosis foetalis
y Frame Shift Mutation-In this there is addition or
X-linked
loss of more than one nitrogenous bases.
(2) Down’s syndrome
y It result in shift of the nitrogenous bases and
44 autosomes + XO
the reading of the codon is affected and hence
(3) Klinefelter’s syndrome
the protein formed is different or may not be
44 autosomes + XXY
formed at all.
(4) Colour blindness Y-linked
y Chromosomal Mutation-Due to a change in the
structure or number of chromosomes. It alters
only the number or position of existing genes.
y Chromosomal mutation may take place in the
following four ways:
⚪ Deletion-Loss or deletion of a part of Previous Year’s Question
chromosome.
Genes located on differential
⚪ Duplication-Addition of a part of homologous
region of Y-chromosomes are
chromosome to the chromosome.
called
⚪ Inversion-In this case, a part of chromosome
(1) XY linked genes
may be broken and then again joined in the
(2) holandric gene
reverse direction.
(3) autosomal genes
⚪ Reciprocal Translocation-Joining of the non-
(4) mutant genes
homologous chromosome to the chromosome
and vice versa (between non-homologous it
may be called as illegitimate crossing over).
Aneuploidy
y A change in the chromosome number which is not
the exact multiple of basic haploid chromosome
number is called Aneuploidy.
35.
y For example:
⚪ Monosomics-One chromosome less than
the normal diploid number (2n–1) e.g., X O
condition.
⚪ Trisomics-One chromosome extra (2n + 1)
e.g., Down syndrome, super male (XYY), super
female (XXX)
Euploidy
y A change in the chromosome number that is
an exact multiple of basic haploid chromosome
number is called euploidy (Polyploidy) e.g.,
⚪ Triploidy-Addition of one extra set of
chromosomes (2n + n = 3n).
⚪ Tetraploidy-2 additional sets of chromosomes.
Polyploidy plays an important role in the
evolution of plants and is more common in
plants.
PEDIGREE ANALYSIS
y An analysis of serial records of the occurrence of
a trait in several generations of a human family is
called pedigree analysis.
y The first thing in this analysis is to collect the
family history regarding trait of a particular
concern.
y Then, the family tree is made after some
generations.
y By convention, the male members of the family
are shown by squares and the females by circles.
Principles of Inheritance and Variation
36.
Utility of Pedigree Analysis
y It helps genetic counsellors to advice couples Previous Year’s Question
who are worried of the possibilities of having
genetically defective children. Which of the following is not a
y The genotype of an individual may be known by hereditary disease?
this analysis. (1) Cystic fibrosis
y It may be useful for hereditary studies in sexually (2) Thalasaemia
reproducing organisms having small number of (3) Haemophilia
offsprings. (4) Cretinism
y The information for would be couples in regard to
certain genetic defect may be known.
DISORDERS
y They can be mendelian or chromosomal.
Mendelian Disorder
Sickle-Cell Anaemia
y It is an autosomal recessive disease.
y It is caused due to point muatation.
y In this the glutamic acid in the 6th position in
the globin chain is replaced by valine.It is caused
due to the mutation of to .
y In this disorder the red blood cells become sickel
shaped.
y The genotype of the healthy individual is HBAHBA
while the affected individual is HBSHBS.
y Homozygous individual for the disease die early
due to destruction of the red blood cells.
y The individual who is heterozygous i.e HBAHBS is
a carrier.
37.
Previous Year’s Question
Thalasemia
y It is an autosomal mutantional gene disorder.
y It results from defective synthesis of subunits of Previous Year’s Question
haemoglobin .
Principles of Inheritance and Variation
y Haemoglobin has two alpha and two beta chains. Rearrangement of genes occurs
y In Thalassemia the synthesis of the chains gets due to
affected and thus it is quantitave defect. (1) translocation and duplication
y It is of the following types- (2) translocation and deficiency
y Alpha thalassemia-The genes HBA1 and HBA2 is (3) deletion and deficiency
present on two loci and thus are four alleles on (4) translocation and inversion
chromosome 16.
y A defect in the alleles on the 16th chromosome
results in less or no synthesis of the alpha
globulin and thus resulting in fewer aplha chains
and more beta chains.
38.
y Beta thalessemia-It is controlled by a single gene
HBB on chromosome 11. Previous Year’s Question
y Mutation in the gene would result in less
synthesis of bet achain and thus more of alpha
The most popularly known blood
chain synthesis.
grouping is the ABO grouping.
y Delta Thalessemia-In some humans delta chain
It is named ABO and not ABC,
is present and alpha chain synthesis does not
because “O” in it refers to having
take place.
(1) overdominance of this type
on the genes for A and B types
Phenylketonuria
(2) one antibody only either anti
y It is an error that is autosomal recesssive.The
A or anti B on the RBCs
affected person does not produce the enzyme
(3) no antigens A and B on RBCs
phenylalanine hydroxylase that convetts amino
(4) other antigens besides A and
acid phenylalanine into tryosin.
B on RBCs
y Thus phenylalanine accumulates in the body and
is converted to phenylpyruvic acid .
y This cause mental retardation and in some cases
phenylpyruvic acid is secreted out in urine as the
kidney is not able to absorb it.
Previous Year’s Question
39.
y X linked inheritance shows a criss- cross
inheritance.The male transmits the X linked gene Previous Year’s Question
to his grandson through his daughter.
y For example-Haemophilia, colour blindness A marriage between normal
visioned man and colour blind
Haemophilia woman will produce offspring
(1) colour blind sons and 50%
carrier daughter
(2) 50% colourblind sons and
50% carrier daughter
(3) normal males and carrier
daughters
(4) colour blind sons and carrier
daughters
40.
Rack Your Brain
41.
Previous Year’s Question
Sickle-cell anaemia is
(1) caused by substitution of
valine by glutamic acid in
the beta globin chain of
haemoglobin
(2) caused by a change in a single
base pair of DNA
(3) characterized by elongated
sickle like RBCs with a
nucleus
(4) an autosomal linked dominant
trait
42.
CHROMOSOMAL DISORDERS
Down’s Syndrome (Autosomal Disorder)
y The cause of this genetic disorder is the presence
of an additional copy of the chromosome number
21 (trisomy of 21st chromosome).
y This disorder was first described by Langdon
Down (1866). The affected individual is
short-statured with broad flat face, wrinkled
tongue and partially open mouth.
y Palm is broad with characteristic palm crease.
Physical, psychomotor and mental development
is retarded.
Klinefelter’s Syndrome
y This genetic disorder is caused due to
the presence of an additional copy of
X-chromosome resulting in a karyotype of 47, XXY. Previous Year’s Question
Such an individual has overall masculine
Principles of Inheritance and Variation
y
development, however, the feminine development A normal woman, whose father
(development of breast, i.e., Gynaecomastia) is was colour-blind is married to a
also expressed. Such individuals are sterile. normal man. The sons would be
(1) 75% colour-blind
(2) 50% colour-blind
(3) all normal
(4) all colour-blind
43.
Rack Your Brain
Cri-du-chat Syndrome: It is an
autosomal disorder in which
the short arm of one of the 5th
chromosome is deleted. The
person suffering the disorder is
mentally and physically impared.
The crying of them is cat like
and thus the name given to the
disorder.
44.
Summary
45.
Principles of Inheritance and Variation
Principles of Inheritance and Variation
Summary
46.
Summary
47.
Principles of Inheritance and Variation
Principles of Inheritance and Variation
Summary
48.
Summary
49.
Principles of Inheritance and Variation
Solved Exercise
Sol. (4)
Blood group B in the progeny will indicate that man was heterozygous.
Sol. (4)
IA,IB and I control the blood group.
Sol. (2)
Contrasting pairs of factors of a character are known as allelomorph.
50.
Sol. (2)
G.J Mendel is known as the father of genetics.
Sol. (1)
Law of segregation states that alleles remain together but separate at the time
of gamete formation.
6. Blue eye colour is recessive to brown eye colour. A brown eyed man whose
mother was blue eyed marries a blue-eyed women. The children will be
(1) both blue eyed and brown eyed 1 : 1
(2) all brown eyed
(3) all blue eyed
(4) blue eyed and brown eyed 3 : 1
Sol. (1)
This is possible as the man and his mother were heterozygous for the eye
colour.
7. The allele which is unable to express its effect in the presence of another is
called
Sol. (4)
Recessive alleles can only express themselves when both the alleles are the
same type.
51.
8. A colour blind girl is rare because she will be born only when
(1) her mother and maternal grand father were colour blind
(2) her father and maternal grand father were colour blind
(3) her mother is colour blind and father has normal vision
(4) parents have normal vision but grand parents were colour blind
Sol. (2)
It explanation only possible if this is the scenario.
Sol. (1)
The gametes formed will be AB, aB and aB. When they fuse together they will
give the mentioned result.
Sol. (2)
Principles of Inheritance and Variation
52.