INHERITANCE & VARIATION

❑ First scientific explanation of inheritance - Gregor Johann Mendel in 1866.

❑ Mendel - experiments on garden pea plant (Pisum sativum).
❑ Mendel’s working period - Seven years (1856 to 1863).
❑ Mendel’s principles - Mendel’s Laws of Inheritance.
❑ Mendel’s work - Mendelism.
❑ Mendel - Father of genetics.
❑ Mendel selected 14 true-breeding pea plant varieties of garden pea plant.

Mendel’s Experiments – Selection of material –

Mendel selected garden pea (Pisum sativum).
It shows following characteristics.
1. Annual plant - three to four months life cycle.
2. Due to short life span - three generations in a year.
3. Small herbaceous plant - thousands of pea plants in small plot.
4. Self-pollinated plant.
5. Flowers are large for easy emasculation.
6. Contrasting characters.
7. No intermediate characters.

Selection of contrasting characters

Mendel selected seven characters as below

Character Dominant Trait Recessive Trait

1. Stem height Tall (T) Dwarf (t)

2. Seed colour Yellow (Y) Green (y)

3. Seed shape Round (R) Wrinkled (r)

4. Pod colour Green (G) Yellow (g)

5. Pod shape Inflated (I) Constricted (i)

6. Flower position Axial (A) Terminal (a)

7. Flower colour Coloured (C) White (c)

❑ Mendel said that ‘factors’ are responsible for expression of a particular trait/ character.
❑ The Mendelian factors are now termed as ‘genes’.

Genetic terminologies -
Gene:
Particular segment of DNA which is responsible for the inheritance and expression of that
character.

Alleles or Allelomorphs:
❑ The two or more alternative forms of a given gene.
❑ They occupy identical loci (positions) on homologous chromosomes.
Dominant:
❑ Allele that expresses its trait in the presence of an alternative allele i.e. in heterozygous
condition.
❑ The allele that expresses in F1 is called dominant.

Recessive:
❑ Allele which is not expressed in the presence of an alternative allele (in heterozygous
condition).
❑ It is an allele that does not express in F1 hybrid.

Phenotype:
❑ The external appearance of an individual.

Genotype:
❑ It is representation of the genetic constitution of an individual.

Homozygous (pure):
❑ An individual having identical alleles for a particular trait, is called homozygous or pure for
that trait.

Heterozygous:
❑ An individual having contrasting alleles for a particular trait, is called heterozygous.

Pure line:
An individual or a group of individuals which is homozygous or true breeding for one or more
traits is called pure line.

Hybrid: -
It is heterozygous individual produced from any cross involving pure parents.

F1 generation:
❑ It is first generation from a given mating between pure parents having contrasting
characters.

F2 generation:
❑ The second generation (progeny) produced by selfing (inbreeding) of F1 generation
offsprings is called second filial generation.

Punnett square/checker board:

❑ It is a diagrammatic representation used to show possibilities of combinations in a
particular cross or breeding experiment.
❑ It is used to know all the possible genotypes & phenotypes of offsprings produced in a
cross.
Homologous Chromosomes:
❑ The morphologically, genetically and structurally identical chromosomes present in a
diploid cell, are called homologous chromosomes.

Phenotypic ratio:
❑ It is the ratio of the offsprings produced in F2 and subsequent generation with respect to
their physical appearance.

Genotypic ratio:
❑ It is the ratio of the offsprings produced in the F2 and subsequent generation with respect
to their genetic makeup.

Monohybrid cross:
❑ A cross between parents differing in only one heritable trait is called monohybrid cross.

Dihybrid cross:
❑ A cross between parents differing in two heritable traits, is called dihybrid cross

Classical method of symbolization

Parental generation P or P1
First filial generation F1
Second filial generation F2
Third filial generation F3
Dominant Capital ‘T’ for Tall, Capital ‘Y’ for yellow
Recessive Small ‘t’ for dwarf, Small ‘y’ for green
Female

Male

Three steps of Mendelian experiments: -

Step 1 – Selection of parents & obtaining pure lines.
Step 2 – Artificial cross of the selected parents to raise F1 generation.
Step 3 – Selfing of F1 hybrids to raise F2 generation
Monohybrid cross experiments & monohybrid ratio –
Monohybrid cross –
It is a cross between two pure (true breeding) parents differing in a single pair of
contrasting characters.

Monohybrid cross experiment: -

Example –
Cross between pure tall & pure dwarf plant.

o Monohybrid ratio – 3:1

o Monohybrid phenotypic ratio – 3:1
o Monohybrid genotypic ratio – 1:2:1

Mendel’s laws of inheritance: -

1. Law of Dominance / First law of inheritance
2. Law of Segregation / Law of Purity of Gametes / Second law of inheritance
3. Law of Independent Assortment / Third law of inheritance

Statement of Law of Dominance:

“When two homozygous individuals with one or more sets of contrasting characters are
crossed, the alleles (characters) that appear in F1 are dominant and those which do not appear in
F1 are recessive”.
Law of dominance can be explained with the help of a monohybrid cross experiment.

Statement of Law of Segregation:

 The law states that “When hybrid (F1) forms gametes, the alleles segregate from each
other and enter in different gametes”. The gametes formed are pure in that they carry only one
allele each (either dominant allele or recessive allele).
Hence, this law is also described as “Law of purity of gametes”.
Law of dominance can be explained with the help of a monohybrid cross experiment.

Dihybrid cross experiments & dihybrid ratio: -

Dihybrid cross –
It is a cross between two pure / true breeding parents differing in two pairs of contrasting
characters.

Dihybrid cross experiment: -

Example –
Cross between yellow round seeded plant & green wrinkled seeded plant.

Phenotypic ratio –
Round yellow: Round green: Wrinkled yellow: Wrinkled green
9 : 3 : 3 : 1

Genotypic ratio –
RRYY: RRYy: RrYY: RrYy: RRyy: Rryy: rrYY: rrYy: rryy
1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1

16 individuals, 4 phenotypes & 9 genotypes are formed in dihybrid cross.

Dihybrid ratio /Dihybrid phenotypic ratio – 9:3:3:1 in all Mendelian crosses.

Statement of Law of Independent Assortment:

The law states that “When hybrid possessing two (or more) pairs of contrasting factors
(alleles) forms gametes, the factors in each pair segregate independently of the other pair”.
This law can be explained by dihybrid cross experiment.

Back cross:
The F1 individuals crossed with any one parent.
Test cross:
❑ The cross of F1 hybrid with the homozygous recessive parent is known as a test cross.
❑ It is used to test whether an individual is homozygous (pure) or heterozygous(hybrid).

Significance of test cross: -

❑ It is used to find out genotype of any plant with dominant expression.
❑ It is used to introduce useful recessive traits in the hybrids in rapid crop improvement
programmes.

Deviations from Mendel’s findings / Post-Mendelian genetics / Neo-Mendelian genetics / Neo-

Medendelism –
Types of gene interactions -
Intragenic / Interallelic Intergenic / nonallelic

It occurs between alleles of same gene. It occurs between alleles of different genes on the
same or different chromosome.
Examples – Examples –
❑ Incomplete dominance ❑ Pleiotropy
❑ Co-dominance ❑ Polygenes
❑ Multiple alleles

a. Incomplete dominance:
❑ Partial expression of both alleles.
❑ One allele cannot supress expression of the other allele completely.
❑ Intermediate expression in the F1 hybrid.
❑ Phenotypic & genotypic ratio is same - 1:2:1.
❑ Example –
1. Flower colour of Four o’clock plant - Mirabilis jalapa.
2. Dog flower - Snapdragon – Antirrhinum majus.

Incomplete dominance Co-dominance

b. Co-dominance:
❑ Equal expression of both the alleles.
❑ Both alleles express in heterozygous condition.
❑ Examples –
1. Coat colour in cattle
2. AB blood group in ABO blood group system
c. Multiple alleles:
❑ More than two alternative forms (alleles) of a gene in a population occupying the same
locus on a chromosome or its homologue.
❑ Multiple alleles arise by mutations of the wild type of gene.

Examples of multiple alleles –

1. Wings of Drosophila.
2. ABO blood groups in human beings.

Multiple alleles in Drosophila: -

❑ It shows series of wing abnormality ranging in size from normal wings to no wings.
Phenotype Genotype

Normal wings (wild type) Vg+

Nicked wings Vgni
Notched wings Vgno
Strap wings Vgst
Vestigeal wings (no wings) vg

ABO Blood groups in human beings: -

❑ The gene I controls the ABO blood groups.
❑ It has three alleles as IA, IB & i.
❑ The IA & IB allele produce a slightly different form of sugar & allele i, does not produce
any sugar.
❑ IA, IB are co-dominants & are completely dominant over i.

Six genotypes & only four phenotypes are as below-

Genotype Phenotype – Blood group

IA IA or IA i A
IB IB or IB i A
IA IB AB
ii O

d. Pleiotropy:
❑ A single gene control two (or more) different traits.
❑ The phenotypic ratio is 1:2 instead of 3:1 because of the death of recessive homozygote.
❑ Example – Sickle-cell anaemia

e. Polygenic / Quantitative inheritance –

 The characters are determined by two or more gene pairs & they have additive or
cumulative effect.
 These genes are called cumulative genes/additive genes/polygenes/multiple factors.
 Examples - Humans height, skin colour & intelligence
  If two genes having additive effect, the ratio is 1:4:6:4:1
 E.g. Wheat kernel colour.

 If three genes having additive effect, the ratio is 1:6:15:20:15:6:1

 E.g. skin colour in human.

Polygenic inheritance in wheat kernel colour Polygenic inheritance in human skin colour

Chromosomal Theory of Inheritance:

➢ Chromosomal theory of inheritance - Walter Sutton & Theodor Boveri
➢ Experimental verification of the chromosomal theory of inheritance - T.H. Morgan
Chromosomes:
Term chromosomes - W. Waldeyer (1888)

Number of chromosomes:
➔ The term Ploidy speaks for number of sets of chromosome i.e. primary basic number of
chromosomes (i.e. ‘x’) in a cell.

➔ Euploidy-
The chromosome number in a cell is the exact multiple of the primary basic number.
➔ Euploids include

Types of euploids No. of Chromosomes

Monoploid / Haploid - n One set of chromosomes

Diploids - 2n Two sets of chromosomes
Triploids - 3n Three sets of chromosomes
Tetraploid - 4n Four sets of chromosomes
 ➔ Aneuploidy -
The chromosome number is not the exact multiple of the haploid set.
➔ Aneuploidy is either addition or deletion of one or more chromosome (s) to the total
number of chromosomes.

Ploidy

Euploidy Aneuploidy

Monoploidy
Hypolpoidy Hyperploidy
(n)
Monosomy
Diploidy (2n) Trisomy
(2n – 1)
(2n+1)
Polyploidy Nullisomy
(3n, 4n, 5n, Tetrasomy
( 2n -2)
etc) (2n +2)

Structure of chromosome:
 Chromosomes are best visible at metaphase stage.
 Typical chromosome consists of two chromatids joined together at centromere or primary
constriction.
 Primary constriction consists of a disk shape plate called kinetochore.
 At the kinetochore, spindle fibres get attached during cell division.
 The ends of chromosome (i.e. chromatids) are known as telomeres.

Types of chromosomes: -
According to the position of centromere, chromosomes are classified into following types –
1. Metacentric (V) 2. Sub-metacentric (L)
3. Acrocentric (j) 4. Telocentric (i)
 Metacentric Sub-metacentric Acrocentric Telocentric
Centromere at Centromere is away Centromere is near the Centromere is at the tip
center of from center of end of chromosome. of chromosome.
chromosome. chromosome.
Equal two arms. One arm is shorter One arm is very short & Only one arm is seen.
than the other. other is long.
“V” shaped during “L” shaped during “j” shaped during “i” shaped /rod shaped
anaphase. anaphase. anaphase. during anaphase.

Sex Chromosomes:
The chromosomes which are responsible for the determination of sex are known as sex
chromosomes (Allosomes).
 Human being and other mammals have X and Y Chromosomes as sex chromosomes.
 Both X and Y chromosome show homologous and non- homologous regions.
 Homologous regions show similar genes while non-homologous regions show dissimilar
genes.

X chromosome Y chromosome

It is straight, rod like and longer than Y. It is straight, rod like and shorter than X.

It is Metacentric. It is Acrocentric.

It has large amount of euchromatin and small It has small amount of euchromatin and
amount of heterochromatin. large amount of heterochromatin.

It is genetically very active. It is genetically less active.

Non-homologous region of X chromosome is Non-homologous region of Y

longer. chromosome is smaller.

 Crossing over occurs only between homologous regions of X and Y chromosomes.

 X-linked genes are present on non-homologous region of X-chromosome while Y-linked
genes are present on non-homologous region of Y-chromosome.

Linkage -
The tendency of two or more genes present on the same chromosomes that are inherited
together is known as linkage.
Linkage - in plants by Bateson and Punnett
Linkage - in animals by T. H. Morgan.
Types of linkage: - 2 types as below -
1. Complete linkage
2. Incomplete linkage

Complete linkage Incomplete linkage

Closely located genes on the chromosomes do not Widely located genes on the chromosomes &
separate & inherit together show complete may separate by crossing over show incomplete
linkage. linkage.
E.g. X chromosome of Drosophila males E.g. In Zea mays - colour and shape of grain

Linkage Groups:
The number of linkage groups of a particular species corresponds to its haploid number of
chromosomes.
Examples –
Man = 23 pairs.
Sweat pea = 7 pairs.
Drosophila melanogaster = 4 pairs.

Crossing Over:
Interchanging and exchanging of corresponding segments between non-sister chromatids of
homologous chromosomes.
➢ It occurs during pachytene of prophase I of meiosis.
➢ Term crossing over - Morgan.

Morgan’s Experiments showing linkage and crossing over:

Morgan used Drosophila melanogaster (fruit fly) for his experiments because –
1. Drosophila can easily be cultured in laboratory.
2. Its life span is short, about two weeks.
3. It has high rate of reproduction.

Observation from Morgan’s dihybrid experiment -

❖ When genes are tightly linked – very few recombinations (1.3 %).
❖ When genes are loosely linked – higher recombinations (37.2 %).

Morgan’s student Alfred Strutevant used the frequency recombination between gene pairs on
the same chromosome as a measure of distance between genes & “mapped” their position on the
chromosome.

Autosomal Inheritance:
 Human somatic (2n) cell contains 23 pairs of chromosomes.
 22 pairs - autosomes
 1 pair - sex chromosomes
 Some characters are inherited by autosomes.

• Autosomal dominant traits –

Widow’s peak and Huntington’s disease, etc.
• Autosomal recessive traits –
Phenyl ketonuria (PKU), Cystic fibrosis and Sickle cell anaemia.
a. Widow’s peak:
➢ A prominent “V” shaped hairline on forehead is described as widow’s peak.
➢ It is determined by autosomal dominant gene.

b. Phenylketonuria (PKU): -
✓ Inborn metabolic disorder - due to recessive autosomal genes.
✓ Phenylalanine hydroxylase enzyme is not produced.
✓ This enzyme is essential for conversion of amino acid phenylalanine into tyrosine.
✓ Due to absence of this enzyme, phenylalanine is not converted into tyrosine. Hence
phenylalanine is accumulated in blood and cerebrospinal fluid (CSF).
✓ It affects development of brain and causes mental retardation.

Sex Linked Inheritance:

➔ Genes located on non-homologous region of sex chromosomes, are called sex-linked
genes.
➔ The inheritance of sex-linked genes from parents to their offsprings, is called sex linked
inheritance.
➔ There are two types of sex-linked genes as X-linked genes and Y-linked genes.

a. X-linked / sex traits:

 Sex-linked / X-linked traits appear more frequently in males than in the females.
 Examples of X-linked recessive traits –
Haemophilia, colour blindness, night blindness, myopia, muscular dystrophy, etc.

b. Y-linked (Holandric) traits:

 Y-linked traits appear only in males.
 Examples –
Hypertrichosis - excessive development of hair on pinna of ear.
Ichthyosis - a congenital skin condition which causes the epidermis to become dry and horny like
fish scales.

Trait Examples

X-linked recessive Haemophilia, colour blindness, night blindness, myopia, muscular dystrophy
Y-linked Hypertrichosis, Ichthyosis
X-Y linked Total colour blindness, nephritis, retinitis pigmentosa
Autosomal dominant Widow’s peak and Huntington’s disease
Autosomal recessive Phenyl ketonuria (PKU), Cystic fibrosis, Sickle cell anaemia, Thalassemia

Criss cross inheritance -

The inheritance of characters from the father to his grandson through his daughter is called
criss-cross inheritance.
Examples –
A. Inheritance of Colourblindness.
B. Inheritance of Haemophilia
Colour blindness:
❖ Colour blindness is X-linked recessive disorder where person is unable to distinguish
between red and green colours as both the colours appear grey.
❖ It is caused due to recessive X-linked genes (XC) which prevents formation of colour
sensitive cells in the retina of eye.
❖ genotypes of male and female individuals can be represented as follows-

Sex Normal Colourblind Carrier

Male XCY XcY -
Female XCXC XcXc XCXc

Haemophilia (Bleeder’s disease) :

✓ X-linked recessive disorder in which blood fails to clot or coagulates very slowly.
✓ The person having recessive gene for haemophilia is deficient in clotting factors (VIII or IX)
in blood.
✓ Genotypes of different individuals can be represented as follows –
Sex Normal Colourblind Carrier
Male XHY XhY -
Female XHXH XhXh XHXh

Criss-cross inheritance (for NEET) -

When father passes the traits to his grandson through his daughter, it is called diagynic.
When mother passes the traits to her grandson through her son, it is called diaandric.
Sex Determination:
❑ German biologist Henking in 1891 – studied spermatogenesis of the squash bug (Anasa
tristis).
❑ “X-body” of Henking was infact a chromosome - ‘X-Chromosome’.

Heterogamesis –
The process by which two types of gametes are produced from one of the two sexes is called
heterogamesis.
 Male heterogamety – In humans – XX-XY type
Female = 44 Autosomes + XX
Male = 44 Autosomes + XY
 Female heterogamety – in birds – ZZ-ZW type
ZW – Female
ZZ - Male

Sex Determination in honey bees:

❑ Haplo-diploid type
❑ Females are diploid (2n=32)
❑ Males are haploid (n=16).
❑ The female produces haploid eggs (n=16) by meiosis and male produces haploid sperms
(n=16) by mitosis.

Sex determination methods

Method Male & female condition

1. XY method (male heterogamety) XX – Female, XY – Male e.g. mammals, Drosophila
2. XO method XX- Female. XO – Male e.g. Roundworm, insects, Grasshopper
3. ZW method (female heterogamety) ZW – Female, ZZ – Male e.g. birds, reptiles, fishes
4. ZO method ZO – Female, ZZ – Male e.g. moths, butterfly
5. Haplo-diploid method Diploid – Female, Haploid - Male

Genetic Disorders:
Genetic Disorders are broadly grouped into two categories -
1. Mendelian disorders
2. Chromosomal disorders

Disorders Examples
Mendelian disorders Thalassemia, sickle- cell anaemia, colourblindness, haemophilia,
phenylketonuria, cystic fibrosis, etc.
Chromosomal disorders –
Autosomal disorders - Down’s syndrome/21 Trisomy
Sex Chromosomal disorders Turner’s syndrome/X monosomy, Klinefelter’s syndrome etc.

Thalassemia:
 Thalassemia is an inherited autosomal recessive disease.
 Haemoglobin molecule is made of four polypeptide chains- 2 alpha (a) and 2 beta (b)
chains.
 Synthesis of alpha chains - by two closely linked genes (HBA1 and HBA2) on chromosome
16
  Synthesis of beta chain is controlled by a single gene (HBB) on chromosome 11.
 Depending upon which chain of haemoglobin is affected, thalassemia is classified as alpha-
thalassemia and beta- thalassemia.
 Symptoms of thalassemia –
Anaemia, pale yellow skin, change in size and shape of RBCs, slow growth and development,
dark urine, etc.
 Massive blood transfusion is needed to these patients.

Sickle cell anaemia –

➢ It is a blood disease in which RBCs become sickle shaped as compared to normal one.
➢ It is an autosomal recessive trait.
➢ It is due to inheritance of a defective allele coding for beta globin.
➢ It results in transformation of normal allele HbA to defective allele Hbs.
➢ HbA HbA – normal
➢ HbA HbS – carrier
➢ HbS HbS – sickle cell anaemic

➢ The defect is caused by substitution of glutamic acid (Glu) by valine (Val) at the 6 th
position of beta globin chain of the haemoglbin molecule.
➢ The substitution of amino acid in the globin protein results due to single base substitution
at the 6th codon of the beta globin gene from GAG to GUG.

 Thalassemia differs from sickle-cell anaemia.

 The thalassemia is a quantitative problem of synthesising few globin molecules.
 The sickle-cell anaemia is a qualitative problem of synthesising an incorrectly functional
globin.

Down’s syndrome / 21 trisomy / (46+1=47) –

 Described by John Langdon Down in 1866.
 Autosomal chromosomal disorder caused by aneuploidy i.e. addition of one chromosome
to 21 pair of chromosomes.
 It is due to failure of separation of chromosome or non-disjunction during meiosis.
 Presence of three copies of 21st chromosome, hence called 21 Trisomy.
 The individuals have 47 chromosomes.

Symptoms of Down’s syndrome -

❑ Typical facial features with a fold of skin (i.e. epicanthal skin fold) over the inner corner of
the eye. This results in downward slanting of eyelids.
❑ The face is typically flat & rounded flat nose, mouth open & tongue protruding.
❑ Mental retardation.
❑ Due to poor skeletal development, they have short stature & relatively small skull.
❑ Flat hands with characteristic crease which runs all the way across the palm i.e. simian
crease.

Sex chromosomal abnormalities –

1. Turner’s syndrome (X monosomy/XO females) – 44+XO = 45
2. Klinefelter’s syndrome (XXY males) – 44+XXY = 47
1. Turner’s syndrome -
❑ It is sex chromosomal disorder caused due to non-disjunction of chromosome during
gamete formation.
❑ Individual born with Turner’s syndrome has 44 autosomes with XO.
❑ The individuals have 45 chromosomes.

Symptoms of Turner’s syndrome -

❑ They are phenotypically female.
❑ They have a short stature (height) and webbed neck, lower posterior hair line, (abnormal
shape of the hairline on the back of the head.)
❑ Broad shield-shaped chest (broad chest), poorly developed ovaries and breast, and low
intelligence.
2. Klinefelter’s syndrome: -
✓ It is chromosomal disorder caused due to extra X chromosome in males. Thus, genotype of
individuals is 44 + XXY.
✓ They are described as feminized males.
✓ Extra chromosome is a result of non-disjunction of X-chromosome during meiosis.

Symptoms of Klinefelter’s syndrome –

✓ Individual is male and has overall masculine development.
✓ Voice pitch is harsh.
✓ They are tall with long arms, feminine development.
✓ They show Gynaecomastia i.e. development of breast.
✓ They have under developed testis.
✓ No spermatogenesis, hence individuals are sterile.

Syndrome Genetic constitution

Down’s Syndrome Female - 45 + XX = 47, Male - 45 + XY = 47
Turner’s Syndrome Female - 44 + X0 = 45
Klinefelter’s Syndrome Male - 44 + XXY = 47

Pedigree analysis – for NEET

An analysis of traits in a several traits in a several of generations of a family is called the pedigree
analysis.
Pedigree study provides a strong tool, which is utilized to trace the inheritance of a specific trait,
abnormality or disease.
Pedigree analysis Symbols -
Mutation: - (for NEET)
 It is a phenomenon which results in alteration of DNA sequences & consequently results in
changes in the genotype & phenotype of an organism.

Types of Mutation: - (for NEET)

1. Chromosomal mutation – It takes place in chromosome.
2. Gene mutation – It takes place in gene/DNA sequence.
Types of Chromosomal mutation – For NEET

Type Explanation
1. Deletion Loss of segment from one/one/another end of chromosome (terminal)
or within the chromosome (intercalary).

2. Duplication Presence of same block of gene more than once in a chromosome

3. Translocation Kind of inter-chromosomal rearrangement in which there is mutual

exchange of chromosomal segments.

4. Inversion Chromosome breaks at two points; broken piece rotates through 1800 &
reunites in reverse order. If the centromere is present in the inverted
segment, it is called pericentric otherwise paracentric inversion.

5. Euploidy An organism either loses a complete set or acquires one or more

additional set of chromosomes over & above two sets of diploid
complement.
It is of two types – monoploidy & polyploidy
6. Aneuploidy 6. Aneuploidy –
Addition or loss of one or more chromosomes to /from complete diploid
chromosome complement.
It is of 4 types –
1. Trisomy – 2n + 1
2. Tetrasomy – 2n + 2
3. Monosomy – 2n – 1
4. Nullisomy – 2n – 2
Gene mutation – for NEET
It may occur naturally/automatically due to internal reasons called spontaneous mutation.
If mutation is produced by external factors or chemicals, it is called induced mutation.

Types of Gene mutation – for NEET

1. Point mutation –
If change in single nucleotide/single base pair of DNA, it is called point mutation.
Example – Classical example of point mutation is sickle cell anaemia

2. Forward mutation –
In this type mutation takes place from wild type to new type.

3. Reverse/backward mutation –
In this type mutation takes place from mutant gene to wild form.

4. Frameshift mutation –
In this type, deletion & insertion of base pairs of DNA takes place.