Class 12 Biology Notes Chapter -5 Notes Principles of Inheritance and Variation
Class 12 Biology Notes Chapter -5 Notes Principles of Inheritance and Variation
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For Session 2024-25
Best Notes
CBSE
CLASS 12 Biology
Introduction:
Genetics is the study of principles and mechanism of heredity and variation. Gregor Johann
Mendel is known as ‘father of Genetics’. important attributes to the reproductive health of a
society.
Inheritance:
Inheritance is the process by which characters are passed on from parent to progeny. It is
the basis of heredity.
Variation:
Variation is the degree by which progeny differ from their parents. Variation may be in terms
of morphology, physiology, cytology and behavioristic traits of individual belonging to same
species.
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• Mendel called the ‘factors’ that passes through gametes from one generation to next
generation. Now a day it is called as genes (unit of inheritance).
• Genes that code for a pair of contrasting traits are known as alleles.
• Alphabetical symbols are used to represent each gene, capital letter (TT) for gene
expressed in F1 generation and small letter (tt) for other gene.
• Mendel also proposed that in true breeding tall and dwarf variety allelic pair of genes
for height is homozygous (TT or tt). TT, Tt or tt are called genotype and tall and dwarf
are called phenotype.
• The hybrids which contain alleles which express contrasting traits are called
heterozygous (Tt).
• The monohybrid ratio of F2 hybrid is 3 : 1 (phenotypic) and 1 : 2 : 1 (genotypic).
Dominance: When a factor (allele) expresses itself in the presence or absence of its
dominant factor called dominance. It forms a complete functional enzyme that perfectly
express it.
Recessive: It can only express itself in the absence of or its recessive factor allele. It forms a
incomplete defective enzyme which fails to express itself when present with its dominant
allele, i.e., in heterozygous condition.
Test cross:
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Test cross is the cross between an individual with dominant trait and a recessive organism in
order to know whether the dominant trait is homozygous or heterozygous.
Mendel’s Experiment:
Gregor Mendel, after performing his experiments on pea plants, discovered the fundamental
laws of inheritance. He proposed three laws of inheritance which we are studying to date.
He has chosen pea plants having seven opposite traits of particular characters and
conducted his experiment on 14 true-breeding pea plant varieties.
Mendel’s Laws:
There were 3 laws that were proposed by Mendel
Law of Dominance: It is explained in this law that all of the traits, or the characters are
controlled by the unit called the factors. These factors are found to be in pairs and are called
alleles. If they occur in the same pair they are called homozygous, they can be either
dominant or recessive and if the alleles occur in a different pair then it is called
heterozygous, It will always be dominant. “For example Allele for tallness is dominant over
the allele for dwarfism”.
Law of Segregation of Genes: Law of segregation is based on the fact that alleles do not
show any blending and that both the characters are recovered as such in the second filial
generation though one of these is not seen in the first generation. The segregation of factors
or a pair of alleles occurs in such a manner that the gamete receives only one of the two
factors from each other. Examples of the law of segregation of alleles. In this R is dominant
over r.
Law of Independent Assortment: It states that pairs of traits in the parental generation sort
independently from one another when passing from one generation to the next. It is
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Incomplete Dominance:
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Incomplete dominance is a type of inheritance in which one allele for a specific trait is not
completely dominant over the other allele i.e. neither allele is dominant over the other in
heterozygous organisms. This results in a combined phenotype. Incomplete dominance is
also called mosaic or partial dominance. Here new phenotypic characters are expressed
entirely.
Mirabilis Jalapa, the marvel of Peru commonly called a 4 o'clock plant. It is a very good
example of incomplete dominance because of its Inheritance of flower color. It is shown in
the figure given below where red flowers (dominant) were crossed with white flowers
(recessive), the F1 generation contains flowers that are pink in color (intermediate). The
phenotypic and the genotypic ratio observed will be the same, that is 1 : 2 : 1.
Co-dominance:
It is the phenomenon of two alleles lacking dominance-recessive relationship and both
expressing themselves in the organism.
Human beings, ABO blood grouping are controlled by gene I. The gene has three alleles IA, IB
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and i. Any person contains any two of three allele I A, IB are dominant over i.
The plasma membrane of the red blood cells has sugar polymers that protrude from its
surface and the kind of sugar is controlled by the gene.
When IA and IB are present together, both express their own types of sugars because of co-
dominance.
The gene ‘i’ does not produce any glycoprotein and so the person who will be having these
two alleles together in a homozygous condition will have O group blood. The genes IA and IB
are dominant over ‘i’ but alleles IA and IB are dominant equally and produce both the
glycoproteins A and B simultaneously and results in the blood group AB. Such alleles are
known as co-dominant alleles.
Crossing over:
It leads to separation of linked genes, It involves exchange of segments between non-sister
chromatics of homologous chromosomes. The frequency of crossing over can never exceed
50%. It increases variability by forming new gene combinations.
Sex Determination:
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Sex determination is the process where the gender of the child can be revealed. Sex
chromosomes are responsible for the determination of the sex of a child. In the case of
humans, females have XX types of chromosomes while males have one X and one Y type of
chromosomes. Thus, when the egg (female gamete) formed will be having identical X-
chromosome each but male sperms (male gametes) are not identical as they have one X-
chromosome and one Y-chromosome. So it's a matter of chance that which sperm fuses with
the egg (X or Y). Thus, the females are said to be homogametic (same type of chromosomes)
while males are said to be heterogametic (different types of chromosomes).
In the case of insects, the mechanism of sex determination is of XO type. Here the eggs
consist of the X chromosomes while the sperms may have one or none X chromosomes.
Thus, the males are said to be homogametic (same type of chromosomes) while females are
said to be heterogametic (different types of chromosomes).
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Genetic Disorders: Broadly, genetic disorders may be grouped into two categories
Mendelian disorders.
Chromosomal disorders: They are transmitted as the affected individual is sterile. This is
always dominant in nature.
Haemophilia:
Sex linked recessive disease in which, in an infected individual, a minor cut leads to non-stop
bleeding. Heterozygous female (carrier) can transmit the disease to their son. The possibility
of a female becoming a haemophilic is extremely rare because mother of such a female has
to be at least carrier and the father should be haemophilic (unviable in the later stage of
life).
molecule. The substitution of amino acid in the globin protein results due to the single base
substitution at the sixth codon of the beta globin gene from GAG to GUG.
Phenylketonuria:
Inborn error of metabolism inherited as autosomal recessive trait. The affected individual
lacks an enzyme that converts the amino acids phenylalanine to tyrosine. As a result of this
phenylalanine is accumulated and converted into phenyl pyruvic acid and other derivatives
that results into mental retardation.
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Aneuploidy:
It is chromosomal disorder Failure of segregation of chromatids during cell division results in
loss or gain of chromosome called aneuploidy.
Polyploidy:
The failure of cytokinesis leads to two sets of chromosome called polyploidy.
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Down’s Syndrome:
Down’s Syndrome is due to presence of additional copy of the chromosome number 21. The
affected individual is short statured with small, rounded head, furrowed tongue and partially
opened mouth. Mental development is retarded.
Klineflener’s Syndrome:
Klineflener’s Syndrome due to presence of an additional copy of X-chromosome (XXY). Such
persons have overall masculine development however, the feminine development
(development of breast, i.e., Gynaecomastia) is also expressed. They are sterile.
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Turner’s Syndrome:
Turner’s Syndrome caused due to the absence of one of the X chromosomes. 45 with XO,
such females are sterile as ovaries are rudimentary. They lack secondary sexual characters.
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Important Questions
➢ Multiple Choice Questions:
1. All genes located on the same chromosome:
(a) form different groups depending upon their relative distance
(b) form one linkage group
(c) will not form any linkage groups
(d) form interactive groups that affect the phenotype
2. Conditions of a karyotype 2n + 1 and 2n ± 2 are called:
(a) Aneuploidy
(b) Polyploidy
(c) Allopolyploidy
(d) Monosomy.
3. Distance between the genes and advantage of recombination shows:
(a) a direct relationship
(b) an inverse relationship
(c) a parallel relationship
(d) no relationship.
4. If a genetic disease is transferred from a phenotypically normal but carrier female to only
some of the male progeny, the disease is:
(a) Autosomal dominant
(b) Autosomal recessive
(c) Sex-linked dominant
(d) Sex-linked recessive.
5. In sickle cell anaemia glutamic acid is replaced by valine. Which one of the following
triplets codes for valine?
(a) GGG
(b) AAG
(c) GAA
(d) GUG.
6. Person having genotype lA lB would show the blood group as AB. This is because of:
(a) Pleiotropy
(b) Co-dominance
(c) Segregation
(d) Incomplete dominance.
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2. Mention the advantages of selecting a pea plant for the experiment by Mendel.
3. What is recombination? Discuss the applications of recombination from the point of view of
genetic engineering.
➢ Assertion and Reason Questions:
1. For question two statements are given-one labelled Assertion and the other labelled Reason.
Select the correct answer to these questions from the codes (a), (b), (c) and (d) as given below.
a) Both assertion and reason are true and reason is the correct explanation of assertion.
b) Both assertion and reason are true, but reason is not the correct explanation of
assertion.
c) Assertion is true, but reason is false.
d) Both assertion and reason are false.
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(iv) If a man with attached earlobe and hairy pinna married a woman with attached earlobe
then what would be the chances of son to have hairy pinna?
a) 50%
b) 100%
c) 75%
d) 0%
(v) A male with attached earlobe, sparse hair on pinna married a female with attached
earlobe. Which of the following is correct regarding their progenies?
a) All sons have a free earlobe with hairy pinna.
b) All daughters have an attached earlobe.
c) 50% daughters have an attached earlobe whereas 50% daughters have a free earlobe.
d) 50% sons have attached earlobe with hairy pinna and 50% sons have a free earlobe
2. Read the following and answer any four questions from (i) to (v) given below:
According to Mendel, one gene control the expression of one character only. The ability of a
gene to have multiple phenotypic effect because it influences a number of characters is an
exception. The gene having a multiple phenotypic effect because of its ability to control of two
or more characters can be seen in cotton. In cotton, a gene for the lint also influences the
height of plant, size of the ball, number of ovules and viability of seeds.
(i) Genes with multiple phenotypic effects are known as?
a) Hydrostatic genes.
b) Duplicate genes.
c) Pleiotropic genes.
d) Complimentary genes.
(ii) Which of the following disorder is an example of genes with multiple phenotypic effects?
a) Phenylketonuria.
b) Haemophilia.
c) Sickle cell anaemia.
d) Both (a) and (c)
(iii) Which of the following is an example of gene with multiple phenotypic effect?
a) Drosophila white eye mutation.
b) Kernel colour in wheat.
c) Height in human beings.
d) Skin colour in human beings.
(iv) Which of the following statements is not correct regarding genes with multiple
phenotypic effect?
a) It is not essential that all the traits are equally influenced.
b) Occasionally a number of related changes are caused by a gene.
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c) It occurs due to effect of the gene on two or more inter-related metabolic pathways.
d) None of these.
(v) Assertion: ln garden pea, the gene which controls the flower colour also controls the colour
of the seed coat and presence of red spots in the leaf axils.
Reason: A pleiotropic gene influences more than one trait.
a) Both assertion and reason are true and reason is the correct explanation of assertion.
b) Both assertion and reason are true but reason is not the correct explanation of
assertion.
c) Assertion is true but reason is false.
d) Both assertion and reason are false.
✓ Answer Key-
➢ Multiple Choice Answers:
1. (b) form one linkage group
2. (a) Aneuploidy
3. (a) a direct relationship
4. (d) Sex-linked recessive.
5. (d) GUG.
6. (b) Co-dominance
7. (d) Peacock.
8. (b) Tt and Tt
9. (d) The alleles of two genes are segregating independently.
10. (c) Linkage
11. (a) non-homologous chromosomes
12. (c) pleiotropy
13. (a) males and females, respectively
14. (b) Mendelian trait
15. (b) observations that the offspring of a cross made between the plants having two
contrasting characters shows only one character without any blending.
➢ Very Short Answers:
1. Dog flower (Snapdragon or Antirrhinum sp.)
2. GAG changes as GUG, Glutamic acid is substituted by valine.
3. Ans.(i) Klinefelter’ s Syndrome (ii) Downs syndrome
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7. Since haemophilic is a sex – linked character, it shows criss – cross inheritance i-e from
father to his daughter therefore son of haemopilic father is never haemophilic.
8. If a child has grown from the zygote formed by XX-egg fertilized by Y-sperm, the child will
suffer from klinefiter syndrome & will have XXY genotype. It is characterized by prominent
feminine characters e.g. tall stature with feminised physique, Breast development pubic hair
pattern, poor beard growth & sterility.
➢ Long Answer:
1. (a) Dominant.
(b) Autosomal.
(c) The genotype of parents in generation I – Female: aa and Male: Aa
The genotype of a third child in generation II-Aa Genotype of the first grandchild in
generation III – Aa
2. Advantages of selecting pea plant as experimental material:
Mendel selected pea plant (Pisum sativum) because:
i. Many varieties were available with observable alternative forms for a trait or a
characteristic.
ii. Peas normally self-pollinate; as their corolla completely encloses the reproductive
organs until pollination is complete.
iii. It was easily available.
iv. It has pure lines for experimental purpose, i.e. they always breed true.
v. It has contrasting characters. The traits were seed colour, pod colour, pod shape,
flower shape, the position of flower, seed shape and plant height.
vi. Its life cycle was short and produced a large number of offsprings.
vii. The plant can be grown easily and does not require care except at the time of
pollination.
3. Answer: Recombination refers to the generation of a new combination of genes which is
different from the parental types. It is produced due to crossing over that occurs during
meiosis prior to gamete formation.
Applications of recombination:
i. It is a means of introducing new combinations of genes and hence new traits.
ii. It increases variability which is useful for natural selection under changing environment.
iii. It is used for preparing linkage chromosome maps.
iv. It has proved that genes lie in a linear fashion in the chromosome.
v. Breeders have to select small or large population for obtaining the required cross-overs.
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For obtaining cross-overs between closely linked genes, a very large population is
required.
vi. Useful recombinations produced by crossing over are picked up by breeders to produce
useful new varieties of crop plants and animals. Green revolution and white revolution
were implemented using the selective recombination technique.
➢ Assertion and Reason Answers:
1. (b) Both assertion and reason are true, but reason is not the correct explanation of
assertion.
Explanation:
Linkage group is linearly arranged groups of genes which fail to show independent
assortment as these are present on the same chromosomes.
2. (d) Both assertion and reason are false.
Explanation:
Linked genes are those genes which occurs on the same chromosome while unlinked genes
are the ones found on different chromosomes. Linked gene show dihybrid ratio of 3 : 1.
Linked genes do not show independent assortment.
➢ Case Study Answers:
1.
(i) (c) Recessive and dominant traits.
Explanation:
ln humans, free earlobes is dominant over attached earlobes
(ii) (b) Y linked trait
(iii) (a) 0%
Explanation:
If a female with attached earlobes (ee) married a male with free lobe (EE) and sparse
hair on pinna then chance of any progeny to have attached ear lobe is zero. It can be
depicted as follows
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2.
(i) (c) Pleiotropic genes.
(ii) (d) Both (a) and (c)
Explanation:
The ability of a gene to have multiple phenotypic effects because it influences a
number of characters simultaneously is known as pleiotropy. ln human beings
pleiotropy is exhibited by syndromes, i.e., sickle cell anaemia and phenylketonuria.
(iii) (a) Drosophila white eye mutation.
Explanation:
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Kemel colour in wheat, height in human beings and skin colour in human beings are
examples of polygenic inheritance, i.e., inheritance controlled by three or more genes.
ln Drosophila, white eye mutation pleiotropic effect, it causes depigmentation in
many part of the body.
(iv) (d) None of these.
(v) (a) Both assertion and reason are true and reason is the correct explanation of
assertion.
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