SURYA CLASSES LECTURE NOTES BIOLOGY XII SCIENCE

CHAPTER NO.03

INHERITANCE AND
VARIATION
 Genetic Terminology:
1. Genetics: The branch of biology which deals with study of heredity and
Variations knows as genetics.
o Genesis: Greek word = meaning: To grow into.
o William Bateson: Coined the term genetics.
o Heredity: Transmission of characters from one generation to next
generation.
o Variations: Morphological differences between parents and offspring.
2. Factor/Determiner: The unit of heredity responsible for inheritance
and expression of a character.
3. Genes: The segment/ particular part of DNA responsible for inheritance
and expression of characters or genes are structural and functional
units of heredity. Genes/Particles transmitted from one generation to
next generation.
4. Character: The feature of an organism is known as character.
o Example: Height of plant
5. Trait :An inherited character and its detectable variant is known as trait
o Example: Tall and Dwarf
6. Alleles/Allelomorphs: An alternate form of the same gene [two or more]
called as alleles. Alleles occupy identical loci/position on homologous
chromosomes.
7. Dominant allele/gene: One gene in a pair can express itself called as
dominant gene. Or the character which express in F1 generation
/heterozygous condition [hybrids] called as dominant gene. Dominant
gene demoted by capital letter.
8. Recessive allele/gene: Allele which is not expressed in the presence of
an alternative allele called as recessive gene or two genes in pair express
itself or their character known as recessive gene. Recessive gene denoted
by small letter of its dominant gene
9. Phenotype: External appearance of an individual for any trait is known
as phenotype. Example: tall and dwarf
10. Genotype: Genetic arrangement /make up/constitution of an
individual with respect to a single character/set or characters known as
genotype.
o Example: TT and Tt for tall and tt for dwarf.

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11. Homozygous: An individual with similar gene pairs [alleles] for a

particular trait known as homozygous. Homozygous breeds true and
form only one type of gametes.
12. Heterozygous: An individual with dissimilar gene pairs[alleles] for a
particular trait known as heterozygous. Heterozygous does not breeds
true and forms two types of gametes.
13. Pure line: An individual or group of individuals that is homozygous for
one or more traits known as pure line.
14. Hybrids: An individual or group of individuals that is heterozygous for
one or more traits known as hybrids. Heterozygous individuals produced
from pure parents having one or more contrasting characters.
15. P1 generation/First parental generation: Parental generation of a
cross that leads to F1 generation.
16. P2 generation/Second parental generation: Parental generation of a
cross that leads to F2 generation.
17. F1 generation/First filial generation: First generation progeny
/offspring are produced from a cross between two P1 individuals. It
shows uniform expression.
18. F2 generation/Second filial generation: Second generation progeny
/offspring are produced from a cross between two P2/F1 individuals. It
does not shows uniform expression [ two or more types of individuals]
19. Punette square/Checker board method: The diagram used to show
possibilities of combinations in a particular cross /breeding experiment.
20. Reciprocal cross: The cross in which male and female parents with
contrasting characters are interchanged to find the expression of a trait.
o Example: Tall male X dwarf female and Dwarf male X tall female.

 Gregor Johann Mendel [ 1822-1884]:

1. Born on: 22 July 1822
2. Nationality: Australian
3. Occupation /Working: Priest in Augustinian Monastery of Brunn
4. Higher studies in subjects: Physics, Mathematics and Natural science.
5. Institute of higher studies: University of Vienna
6. Beginning of work: In 1856 [Hybridization experiment on garden pea]
7. Work presentation: National history society of Brunn
8. Work publication: Annual proceeding of National history society of
Brunn [1866]
9. Death: 1884
10. Rediscovery of Mendel’s Law :In 1990,Mendel‟s findings were
rediscovered by 3 scientists
o Hugo de Vries [Holland]: Publication of Mendel‟s work/research
paper in scientific magazine Flora

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o Karl Correns [Germany]: Postulates 3 laws called as Mendel‟s law of

inheritance.
o Erich Tschermak [Austria]:

Causes of selection of pea plant in Mendel’s work :

[ Pisum sativum : Garden pea]
1. Well defined characters: Pea plant shows well defined characters.
2. Short life cycle: Pea plant is annual plant having growth period 4
months.
3. Large bisexual flowers: Pea plant contains large bisexual conspicuous
flowers.
4. Large number of varieties/ offspring’s: Pea plant produces large
number of fertile varieties /offspring‟s [fertile seeds]
5. Easy for emasculation: Pea flowers are easy for emasculation. [removal
of anther well before anthesis is known as emasculation]
6. Easy for artificial pollination: Pea flowers are easy for artificial
pollination.
7. Self pollinating plants: Pea plants are self pollinating plants.
8. Contrasting heritable characters: Pea plants contain contrasting
characters.
9. No intermediate characters: in pea plants, there are no intermediate
characters.
10. Produces large number of fertile seeds: Pea plant produces large
number of fertile seeds
11. Easy for handling: Pea plant is small herbaceous plant so easy for
handling.
12. Easy for cultivation: Pea plant is easy for cultivation.
13. Easy for both self & cross pollination: Pea plant is easy for both self
and cross pollination.
Characteristics of pea flower:

1. Vaxillary aestivation: Pea flowers show vaxillary aestivation.

2. Papilionaceous /Butter fly like corolla: Pea flowers contains
Papilionaceous/butter fly shaped corolla.
3. Five petals: Pea flower contains 5 petals.

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4. Keel/Carcina: Fusion of two innermost petals forms boat like

structure known as keel /carcina.
5. Wing and standard: Two petals present at lateral side of keel known
as wing and one large petals overlaps the lateral petals is standard
6. Stamens and carpals: Stamens are carpals are enclosed by carcina.
Both mature naturally and simultaneously.
7. Number of stamens: Androecium of pea flower contains 10
diadelphous stamens.
8. Filaments: 9 filaments of stamens are fused and 1 filament free
Contrasting Characters of Garden pea used by Mendel:

 Mendel’s Laws of inheritance:

1. Law of Dominance[First law of inheritance]:
o Statement: The law states that, one allele in a pair mask or prevents
the expression of the other allele. The character express in F1 generation
is called as dominant and one which is suppressed called as recessive.
o Explanation: With the help of Monohybrid cross experiment. s
o Monohybrid cross: A cross between two organisms/parents differing in
only one /single pair of contrasting character
o Presentation:
 Character: Height of stem[ Tall and Dwarf]
 Alleles: T is dominant allele for tallness and t is its allele for
dwarfness.
P1 Pure Tall Pure Dwarf
TT tt

Meiosis Meiosis

Gametes
Gametes T t

Fertilization
F1 Generation Tt Hybrids/Homozygous tall

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o Phenotype: Hybrid tall

o Genotype: Tt
o Significance:
1. Dominant alleles suppress the character of recessive allele.
2. Masking of harmful recessive traits [Idiocy, Diabetes and Haemophilia
]
3. Law of dominant is significant but not universally true.
2. Law of segregation[Second law of inheritance]:
o Statement: The law states that ,when hybrids [f1] forms gametes ,the
alleles segregate from each other and enter into different gametes. The
allelic pair in hybrid remains together without mixing
o Law of purity of gametes: The law states that the gametes receives only
one allele and are pure for given trait.
o Explanation: With the help of monohybrid cross experiment.
o Monohybrid cross: A cross between two organisms/parents differing in
only one /single pair of contrasting character called as monohybrid
cross.
o Presentation:
 Character: Height of stem[ Tall and Dwarf]
 Alleles: T is dominant allele for tallness and t is its allele for
dwarfness.
P1 Pure Tall Pure Dwarf
TT tt
Meiosis Meiosis

Gametes
Gametes T t

Fertilization
F1 Generation Tt
Hybrids/Heterozygous tall
o Phenotype: Hybrid tall
o Genotype: Tt

P2 Hybrid Tall Hybrid Tall

Tt Tt

Meiosis Meiosis

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Gametes T t T t

F2 Generation Punett square/Checker Board method

Gametes T t
Male
female

T TT Tt
Pure/Homozygous tall Hybrid/Heterozygous
tall

T Tt tt
Hybrid/Heterozygous Pure/Homozygous
tall dwarf

o Phenotypic ratio: Tall : Dwarf

1 : 3

o Genotypic : Homozygous Tall : : : Heterozygous Tall Homozygous dwarf

1 : 2 : 1
o Significance:
1. Reappearance of recessive traits in F2 generation.
2. Universally applicable because gametes are haploid i.e. contain only
one set of chromosomes.

3. Law of independent assortment of genes [Third

law of inheritance ] :
o Statement: When hybrids possessing two pairs of contrasting
characters forms gametes, the alleles in each pair segregate
o Explanation: With the help Dihybrid cross.
o Dihybrid cross: A cross between two organisms/parents differing in
two pair of contrasting character called as dihybrid cross.
o Presentation:
o Character: Height of stem and Shape of seed
o Alleles:
1. T is dominant allele for tallness and t is its allele for dwarfness.
2. R is dominant gene for round seed and r its allele for wrinkled seed.

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P1 Pure Tall Round Pure Dwarf Wrinkled

TTRR ttrr

Meiosis Meiosis

Gametes
Gametes TR tr

Fertilization
F1 Generation TtRr

Hybrids/Hetrozygous tall Round Dihybrid

o Phenotype: Hybrid tall Round

o Genotype: TtRr
P2 Pure Tall Round Pure Dwarf Wrinkled

TtRr TtRr
Meiosis Meiosis

Gamete TR Tr tR tr TR Tr tR tr
s

F2 Generation Punett square/Checker Board method

Gametes TR Tr tR tr
Male
female
TR TTRR TTRr TtRR TtRr
Tall Round Tall Round Tall Round Tall Round

Tr TTRr TTrr TtRr Ttrr

Tall Round Tall wrinkled Tall Round Tall Wrinkled

tR TtRR TtRr ttRR ttRr

Tall Round Tall Round Dwarf Round Dwarf Round

tr TtRr Ttrr ttRr ttrr

Tall Round Tall wrinkled Dwarf Round Dwarf Wrinkled

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o Phenotypic: Tall : Tall : Dwarf : Dwarf

ratio: Round wrinkled Round Wrinkled

9 : 3 : 3 : 1

o Genotypic ratio: 1 : 2 : 1 : 2 : 4 : 2 : 1: 2 : 1

TTRR: 1 TTRr : 2 TTrr: 1

TtRR : 2 TtRr : 4 Ttrr: 2

ttRR : 1 ttRr : 2 Ttrr : 1

o Significance:
1. Appearance of new combinations in F2 generation.
2. Recombination due to crossing over during meiosis.
3. Applicable for the traits located on different chromosomes
4. Not universally applicable.
5. Law of probability in statistics are applicable i.e. Probability of two
independent events occurring simultaneously is the product of their
individual probabilities.
6. Dihybrid ratio is product of two monohybrid ratio
3:1 X 3:1 9 : 3 : 3 :1
Back cross: A cross between F1 hybrid with either of it‟s two parents
from which it is derived.
o Significance:
1. Rapid method of improving variety of crops.
2. Introduction of desirable characters
3. Used in hybridization experiment
4. Use to find out genotype of any plant with dominant expression.
5. To find out genotype in F1 hybrids.
Test cross:Cross between F1 hybrids with its homozygous recessive
parent.
o Test cross is back cross but back cross is not necessarily a test cross
o Significance :
1. Determining genetic constitution of an organism.
2. Rapid/quick method of improving varieties of plants
3. Obtaining desirable traits in homozygous condition.
4. Useful for breeders‟ and Geneticists.
5. Production of pure line varieties.
6. To verify laws of inheritance.
7. Introduction of useful recessive traits in the hybrids.

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8. Easy and quick method.

o Monohybrid test cross:

P1 Pure Tall Pure Dwarf

TT tt
Meiosis Meiosis

Gametes
Gametes T t
Fertilization
F1 Generation Tt

Hybrids/Heterozygous tall

P2 F1 Hybrid Tall P1 Pure dwarf

Tt tt

Meiosis Meiosis
Gametes T t t

F2 Generation Tt tt

Heterozygous tall Homozygous dwarf

o Phenotypic and Genotypic Ratio: 1: 1

o Monohybrid Back cross:

P2 F1 Hybrid Tall P1 Pure Tall

Tt TT

Meiosis Meiosis

Gametes T t T

F2 Generation TT Tt

All Dominants Homozygous tall Heterozygous tall

dwarf

o Phenotypic and Genotypic Ratio: 1 : 1

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 Dihybrid Test Cross:

P2 Hybrid Tall Round Pure Dwarf Wrinkled

TtRr ttrr
Meiosis Meiosis

Gamete TR Tr tR tr tr
s

F2 TtRr Ttrr ttRr ttrr

Generation Tall Tall Dwarf Dwarf

Round wrinkled round wrinkled

o Phenotypic and 1 : 1 : 1 : 1
Genotypic ratio
 Dihybrid Back Cross:
P2 Hybrid Tall Round Pure Tall Round

TtRr TR
Meiosis Meiosis

Gamete TR Tr tR tr TR
s

F2

Generatio
n TTRR TTRr TtRR TtRr

Tall Tall Tall Tall

Round Round round Round
wrinkled

o Phenotypic ratio : Tall Round [All dominants]

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o Genotypic ratio : 1 : 1 : 1: 1
Deviations from Mendelian Ratios:
Post Mendelian genetics/ Neo-Mendelian genetics: The
modified Mendel‟s law with different pattern of inheritance or gene
interactions is called as post Mendelian genetics.
o Types of Gene interactions:
A. Intragenic/Interallelic gene interactions: The gene interaction
between alleles of same gene is called as intragenic gene interaction.
1. Incomplete dominance.
2. Co-dominance.
3. Multiple alleles:
B. Intergenic /Non allelic gene interactions:The gene interaction
between alleles of different genes on the same or different
chromosomes.
1. Pleiotrophy.
2. Polygenes.
3. Epistasis
4. Supplementary genes
5. Complementary genes.
A. Intragenic/Interallelic gene interactions:
1. Incomplete dominance: Both the genes of an allomorphic pair
express themselves partially. One gene cannot suppress the expression of the
other gene completely and there is intermediate expression. Factors segregate
but no mixing of factors. The phenotypes of hybrid intermediate between
phenotype of parents.
o Example 1 : Four ‘O’ clock plant [ Mirabilisjalpa ] = Color of
flower
o Presentation:
 Character: Color of flower [ Red and white]]
 Alleles: R is dominant allele for red flower and r is its allele for white flower.
P1 Pure Red flower Pure white flower
RR rr
Meiosis Meiosis

Gametes R r
Gametes

Fertilization
F1 Generation Rr

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Hybrids/Heterozygous Pink
o Phenotype: Hybrid pink
o Genotype: Rr
P2 Hybrid Pink Hybrid Pink

Rr Rr

Meiosis Meiosis

Gametes R r R r

F2 Generation Punett square/Checker Board method

Gametes R r
Male
female
R RR Rr
Pure/Homozygous red Hybrid/Heterozygous
flower pink flower
r Rr rr
Hybrid/Heterozygous Pure/Homozygous
pink flower white flower

o Phenotypic ratio: Red : Pink White

1 : 2 : 1

o Genotypic ratio: Homozygous Red : Heterozygoys Pink : Homozygous White

RR Rr rr
1 : 2 : 1
o Example 2: Snapdragon [Antirrhinum majus ] = Size of leaves

2. Co-dominance: Both the genes of an allelomorphic pair express

themselves equally in F1 hybrids.
o Co-dominant alleles: The alleles which are able to express themselves
independently even if present together in hybrids.
o Example: Coat color in cattle
o Presentation:
 Character: Coat color in cattle
 Alleles: R is dominant allele Red coat color and W is allele for white
coat color .

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P1 Pure Red coat color Pure White coat color

RR WW
Meiosis Meiosis
\

Gametes
Gametes R W

Fertilization
F1 Generation RW
Hybrids/Heterozygous Roan coat
color
o Phenotype: Hybrid Roan coat color
o Genotype: RW

P2 Hybrid Roan Hybrid Roan

RW RW

Meiosis Meiosis

Gametes R W R W

F2 Generation Punett square/Checker Board method

Gametes R W
Male
female

R RR RW
Pure/Homozygous Red Hybrid/Heterozygous
coat color Roan coat color

W RW WW
Hybrid/Heterozygous Pure/Homozygous
Roan coat color White

o Phenotypic ratio: Red : Roan White

1 : 2 : 1

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o Genotypic :: :
Homozygous Red Hybrid Roan Homozygous White
Ratio
1 : 2 : 1
3. Multiple alleles :
o More than two alleles of a gene in a population occupying same locus
on a chromosome or its homologue are called as multiple alleles.
o Wild type gene is a mutant gene responsible for multiple alleles.
o Wild type gene undergoes mutation several times and produces series
of alternative expressions/alleles.
o Wild type gene is dominant over all the mutant /multiple alleles.
o Multiple alleles do not undergo crossing over.
1. Series of wing abnormality in Drosophila:
S. Phenotype Genotyp Remark
N e
1. Normal wings Vg+ Wild type
gene
2. Nicked wings Vgni Multiple
3. Notched wings Vgno alleles
4. Strap wings Vgst
5. Vestigeal wings vg

2. ABO blood group system: The gene I has 3 alleles i.e. IA, IB and i.
Each person possesses any two alleles.. IA, and IBalleles are co-
dominants and both are completely dominant over allele i. ABO blood
group system has 6 different genotypes and only 4 phenotypes.

B. Intergenic /Non allelic geneinteractions.

1. Pleiotrophy:When a gene and its allele control two or more unrelated
characters/different traits,the phenomenon is called as pleiotropism.
The genes responsible for pleiotropism called as
pleiootrophic [Link] gene which causes death of a bearer known
as lethal gene.
o Example : Sickle cell anemia
 HbA: Dominant gene HbS : Recessive gene /lethal gene

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o Presentation:
 Alleles: HbA is dominant allele and HbS is recessive allele for sickle
cell trait
X
P1 Normal Person Sickle cell anaemic
HbA HbA HbSHbS
Meiosis Meiosis

Gametes HbA HbS

Fertilization
F1 Generation HbA HbS
[Hybrids] Sickle cell carrier
o Phenotype: Sickle cell carrier
o Genotype: HbA HbS
P2 Sickle cell carrier Sickle cell carrier

HbA HbS HbA HbS

Meiosis Meiosis

Gametes HbA HbS HbA HbS

F2 Generation Punett square/Checker Board method

Gametes HbA HbS

Male
female

HbA HbA HbA HbS

HbA Normal Sickel Cell Carrier

HbA HbS HbSHbS

HbS Sickel Cell Carrier Sickel cell anaemic

o Phenotypic ratio:: Normal : Sickel Cell Carrier Sickel Cell anaemic

1 : 2 : 1

o Genotypic : HbA HbA :: : HbA HbS : HbSHbS

1 : 2 : 1

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o Conclusion: Heterozygous carrier shows mild anemia due to oxygen

deficiency but phenotypically normal. Homozygous recessive die due to
fatal anemia. Gene fr sickle cell anemia is lethal in homozygous
condition where as produces sickle cell trait in carriers. Therefore two
different expressions produced by single gene. Avoid arranged marriages
between heterozygous carrier.

 Chromosomal Theory of Inheritance:

o Sutton & Boveri: shows chromosomes as a carrier of genetic
material and proposed chromosomal theory of inheritance.
o Statement:
1. Chromosomes are found in pairs in somatic (diploid) cells.
2. During gamete formation (gametogenesis), homologous
chromosomes pair and segregate independently during meiosis.
3. Thus, each gamete contains only one chromosome of a pair i.e.
haploid in nature.
4. Nucleus of gametes contains chromosomes which carry all the
hereditary characters.
5. Gametes (sperms & eggs) carry all the heredity characters so they
are link between parent and offspring.
6. During fertilization [syngamy], the union/ of sperms and egg
restores the diploid number of chromosomes.
Chromosomes:
o Meaning : [Greek word] - Chroma : Color Soma-:Body
o Definition: Filamentous thread like bodies present in nucleus and
visible only during cell division known as chromosomes.
o Size: Each metaphase chromosomes varies from
a] Length: 0.1-33 µm b] Thickness: 0.2-2 µm
o Shape: Varies according to stages of cell division.
a] Interphase: In the form of chromatin network.
b] Metaphase: Highly condensed, short and thick present at equator
o Chemical nature: Eukaryotic chromosome made up of DNA, Histone
and non- histone protein.
Somatic cell/Body cell : Somatic cells are diploid contains
Double/ 2 sets of chromosomes i.e. 2n
Gametic Cell/Gametes (Sperm & Egg) : Gamete cells haploid
contains single/1 set of chromosomes i.e. n
Homologous chromosomes: The Morphologically and
Genetically identical chromosomes.
Genes and chromosomes occur always in pairs in diploid
organisms. Alleles/genes located on chromosomes segregate
along with chromosome during gamete formation.
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o Structure:
1. Chromatids: The part of chromosome which contains a double
stranded DNA molecule which extends from one end to chromosome to
another called as chromatid.
a. Sub chromatids: Centromere divides chromatid into two halves
known as sub –chromatids. [Each sub–chromatid contains
chromonena]
b. Sister chromatids: Longitudinal splitting of chromosome/
chromatid forms two identical threads like halves/strands called as
sister chromatids. [During metaphase ,chromosomes shows sister
chromatids]
c. Chromonema/Chromonemata: Each chromatid [made up of sub
chromatids] contains long, slender,
unbranched, highly coiled DNA thread called as chromonema.
[Pleural: Chromonemata]. Chromonema extending through the
length of chromatid.
d. Chromomere: The number of small swellings on the surface of
chromosome or chromonemata.
e. Telomere: The tip of chromosome is called as telomere. It prevents
the sticking of two ends of chromosomes. It attach to
the nuclear envelope.
2. Centromere/ Primary
constriction: The part of
chromosomes that joins two
chromatids to each other is
centromere/The point of attachment
of chromatids is centromere.
o Kinetochore: A dark shaped plate
present at centromere is known as
kinetochore. During cell division,
spindle fibers attached to
centromere.
3. Secondary constriction/ Nuclear
organizer: Additional narrow areas
present on some chromosomes
known as secondary constriction.
a. Secondary constriction I /Nuclear
organizers: It is necessary for
formation of nucleolus. Nucleolus
appears during interphase]
b. Secondary constriction II

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4. Satellite: The short spherical structure present below the nuclear

organizer is satellite. It contains constrictive heterochromatins
5. Chromonemata: Each chromosome made up of sub chromatids
called as Chromonemata. [Singular: Chromonema]
6. Chromomere: The number of small swellings on the surface of
chromosome or chromonemata.
7. Telomere: The tip of chromosome is called as telomere. It prevents
the sticking of two ends of chromosomes. It attach to the
nuclear envelope.
o Functions:
1. Chromosomes are carriers of heredity [carriers of genes].
2. Chromosomes have ability of self-replication[Production of Exact
copies of themselves]
3. Responsible for heredity, variation, mutation and evolution of
species/ evolutionary development of eukaryotic species.
4. Responsible for inheritance/transmission of characters
5. Regulate protein synthesis ,helps in cell division and cell growth
6. Controlling cellular metabolism (by directing synthesis of proteins)
7. Determination of sex & Determination of somatic characters

 Numbers of chromosomes:
The numbers of chromosomes is
specific and constant for particular species so having great importance
in the study of phylogeny and taxonomy of the species.

o Ploidy: It refers to degree of repetition of the primary basic number of

chromosome[x] in the cells.
1. Euploidy: The condition when the chromosome number in a cell is
the exact multiple of the primary basic number.
a. Monoploid/haploid [Monoploidy] : One/single set of chromosome
i.e. x=n
b. Diploids [Diploidy]: Two sets of chromosomes i.e. 2n
c. Polyploid /Polyploidy : More than 2 sets of chromosomes
i. Triploids [ Triploidy]: Three sets of chromosomes i.e. 3n
ii. Tetraploids [Tetraploidy]: Four sets of chromosomes i.e. 4n
2. Aneuploidy: The condition when the chromosome number in a cell
is not the the exact multiple of the primary basic number/haploid
set of chromosome.

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a. Hypoploidy: Addition of one or more chromosome/chromosomes to

the total number of chromosomes in a cell.
i. Monosomy [2n-1] : Turner Syndrome
ii. Nullisomy [2n-2]
b. Hypoploidy: Deletion of one or more chromosome/chromosomes to
the total number of chromosomes in a cell.
i. Trisomy [2n+1] : Kline filter Syndrome , Down‟s syndrome
ii. Tetrosomy [2n+2

 Types of Chromosomes:
A. On the basis of position of centromere:

Types of Metacentric Sub- Acrocentric Telocentri

Chromosom metacentric c
es
1. Position In the middle Some Centromere is The
of of distance situated near centromere
centrome chromosome away from the end of is situated
re (At the centre the middle. chromosome at the tip or
along with or at sub terminal
the long terminal position
axis). position.
2. Nature of Two arms of It contains One arm is It shows
arms chromosome one longer very short and only one
are nearly arm and one one arm is arm
equal. shorter arm long
3. Appearan V „shaped „L‟ shaped „J‟ shaped rod
ce during shaped/
anaphase i Shaped

4. Example 1, 3, 6, 7, 8, 2,4,5,9,10,12 13,14,15,21,2

11,16,20 & X ,17 and 18 2 and Y
chromosome chromosome chromosome

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B. On the basis of nature:

1. Autosomes: The chromosomes responsible for the determination of
body characters are known as autosomes. Autosomes carry genes for
somatic characters. Autosomes are more in numbers and symbolized
as „A‟. In man, 22 pairs of autosomes present.
2. Heterosomes/Sex chromosomes/Allosomes: The chromosomes
responsible for the determination of sex are known as sex chromosomes.
Sex chromosomes carry genes for determination of sex. Sex
chromosomes are of 2 types: a. X chromosome b.Y chromosome
a] X sex chromosome: b] Y sex Chromosomes:
Homomorphic Chromosomes: Female contains XX chromosomes
known as Homomorphic chromosomes or female chromosomes.
Heteromorphic chromosomes: Male contains XY chromosomes
known as heteromorphic or heterogametic or male chromosomes.

Non homologous 1. Non –homologous part/Region:

region The portion which is not identical
and do not undergo pairing is non-
X linked Y linked homologous part. Non homologous
Gene Gene region shows dissimilar genes.

2. Homologous part/Region: The

major portion of X & Y chromosomes
are identical and undergo pairing. A
Homologous homologous part shows similar genes
Region and occurrence of crossing over
takes place.
X chromosome Y chromosome

S.N. Points X chromosomes Y Chromosomes

1. Length More in length Less in length
2. Euchromatin Large amount Small amount
[ More amount of [Less amount of
active genes] active genes]
3. Heterochromatin Small amount Large amount
4. Genetic importance Genetically more Genetically less
active [large amount active [Less
of DNA/genes] amount of
DNA/genes]
5. Nature of Sub-metacentric Acrocentric
chromosome
6. Non homologous Contains more genes Contains less
region genes

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7. Genes on non- „X‟ linked genes „Y‟ linked genes /

homologous region Holandric genes
8. Inheritance Criss-cross Straight line
9. Occurrence Found in male and Found only in
female female
10. Number in male Only one Two
11. Numbers in female Two[Double dose] Absent
12. Determination of sex Female sex Male sex
13. Sex linked Colorblindness Hypertrichosis
inheritance Haemophillia
Night blindness
Myopia Muscular
dystrophy

Linkage: Tendency of genes to inherit together is known as linkage.

All genes on a chromosome linked to one another and belong to same
linkage groups. Number of linkage group depends on haploid number
of chromosomes present in particular species of organisms.
Human beings contain 23 linkage groups. Linkage groups have
broken during crossing over and new combinations of genes formed.
o Kinds/Types:
1. Complete linkage: The linked genes which are closely located in the
chromosomes, do not separate, remains always together and inherit
together called as completely linked genes. The phenomenon of
inheritance of completely linked genes is known as complete linkage.
2. Incomplete linkage: The linked genes which are widely located on
chromosomes and may separate by crossing over called as
incompletely linked genes. The phenomenon of inheritance of
incompletely linked genes is known as incomplete linkage.

Sex linked inheritance/Sex linkage:

The transmission of
body characters from parent to offspring along with sex is called as
sex linked inheritance.
1. Complete sex linkage: Completely sex linked genes present on non-
homologous region of X & Y sex chromosomes. Completely sex linked
genes are tightly linked and inherit together. Crossing over not takes
place in this region. Hence genes are called as completely sex linked
genes and their mode of inheritance is complete sex linkage.
o Example:

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Red green color blindness, Hemophilia and Myopia

2. Incomplete sex linkage: Incompletely sex linked genes present on
homologous region of X & Y sex chromosomes. Incompletely sex linked
genes are loosely linked and do not inherit together. Crossing over takes
place in this region. Hence genes are called as incompletely sex linked
genes and their mode of inheritance is in complete sex linkage.
o Example: Total blindness, Retinitis, Pigmentosa nephritis.

Crossing Over :
o Exchange or interchange of gene segments between non –sister
chromatids of homologous chromosomes which produces
recombinations /new combinations of genes.
The process of recombination of genes by exchanging
corresponding segments between non sister chromatids of homologous
chromosomes called as crossing over
Exchange of genetic material between non-sister chromatids of
homologous chromosomes called as crossing over
When two genes in a Dihybrid cross grouped on the
chromosomes, the proportion of parental gene combination is much
higher than non-parental type. Parental genes are completely linked
while non-parental gene combination formed due to recombination
o Mechanism / Steps /phases of Crossing over:
1. Synapsis: The pairing of homologous chromosomes (one paternal one
maternal) in diploid cell is known as synapsis.
 Occurrence: Zygotene stage of prophase I of Meiosis I
2. Tetrad formation: The pair of homologous chromosomes after
synapsis is known as bivalents/tetrad. Or the complex formed by the pair
of synapsed homologous chromosome is tetrad.
 Occurrence: Zygotene stage of prophase I of Meiosis I
3. Crossing over: Twisting of homologous chromosomes for exchange of
genetic material between non sisters chromatids called as crossing over.
During crossing over chiasmata formation takes place. The point
where crossing over takes place known as chiasmata.
Breaking of chiasmata and exchange of segments takes place
with the help of enzyme endonuclease called as recombination.
 Occurrence: Pachytene stage of prophase I of meiosis I
4. Termination/Terminalization: Complete exchange of segments of
non-sister chromatids known as terminalization.
 Occurrence: Diakinesis stage of prophase I of meiosis I

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Morgan’s Experiment : [Linkage& Recombination]

o Drosophila melanogaster: Morgan used Drosophila [ fruit fry] for
sex linked studies and perform Dihybrid crosses.
o Causes for selection of Drosophila :
1. Easy for culturing in laboratory
2. Short life span [ about 2 weeks]
3. High rate of reproduction
o White eyed : W Red eyed : w
o Minature wings : m long wings : w+
o + : Dominant wild type allele
Morgan Experiment
Cross A Cross B
Parental White eyed X Red eyed White bodied X Brown bodied
generation Yellow bodied Brown bodied miniature wings Long wings
I (P1) (Tightly Linked) ( Wild type ) (Loosely Linked) ( Wild type)

Gametes
Wy X w+y+ Wm X w+m+

Filial Parental type 98.7% Parental type 62 .8 %

generation
I (F1) Recombinant 1.3% Recombinant 37.2%

o Conclusion:
1. When two genes situated on the same chromosome, then the
proportion of parental combination is much higher than non-parental
type.
It occurs due to physical association or linkage of two genes.
2. When genes are grouped on the same chromosome, some genes are
strongly linked[ low rate of recombination ] some genes are loosely
linked[ high rate of recombination]
3. Morgan concluded that recombination takes place due to crossing
over during meiosis.
4. Genes located on the same chromosome are completely linked and
incompletely linked. Completely linked genes shows low rate of
recombination and incompletely linked genes shows high rate of
recombination.

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 Sex linked inheritance :

o Sex linked genes: The genes located on non-homologous region of
sex chromosome but not involved in determination of sex known as
sex linked genes.
o Sex linked characters/traits : The body character
controlled/determined by sex linked genes called as sex linked
character/traits .
o Sex linked inheritance: The phenomenon of inheritance of sex
linked genes called as sex linked inheritance.
o
A. X linked/Sex linked genes:
1. Genes located on non-homologous region of X chromosome only
called as „X‟ sex linked genes.
2. „X‟ sex linked genes have no corresponding allele in Y chromosome.
3. The recessive sex linked genes responsible for sex linked
character/trait.
4. In females, two recessive sex linked genes are required for
expression of sex linked traits.
5. In females, two X chromosomes present hence genes are in double
dose.
6. If one of X chromosome carries a recessive gene for a defect, its
activity suppressed by another X chromosome.
7. The females with one recessive gene is called as carrier and does not
suffer from disease [phenotypic ally normal]
8. In male single recessive gene can express it.
9. In male, only one X chromosome present .If it is recessive, it is
expressed phenotypically because there is no dominant gene to
suppress its effect.
10. Sex linked traits appears more frequent in males than female.
o Example: Colorblindness, Hemophilia

B. Y linked/Holandric genes:
1. Genes located on non-homologous region of Y chromosome only
called as „Y‟ sex linked inheritance.
2. Y sex linked genes inherit along with Y chromosomes and expressed
only in males
3. Example: Hypertrichosis [ Excessive growth of hair on pinna of ear]

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 Colorblindness: Sex linked disease in which person cannot

distinguish between red and green colors and both colors appears grey.
1. Cause: X linked recessive gene [ Xc ]
2. Location of genes: Non homologous region of X chromosome.[Alleles
absent in Y chromosome]
3. Genes responsible : XC : Dominant gene for normal vision
Xc : Recessive gene for colorblindness
4. Genotypic representation:

Sex Normal Colorblind Carrier

Male XCY XcY -
Female XCXC XcXc XCXc

5. Presentation:
P1 ♂ ♀
Phenotype Colorblind male X Normal vision female
Genotype XcY XCXC

Gametes Xc Y XC XC

F1 XCXc XCXc XCY XCY

Carrier Carrier Normal Normal male
female female male

Phenotypically normal : Normal male

(50 %) (50 %)
P2 ♀ ♂
Phenotype Carrier female Normal male
Genotype XCXc XC

Gametes XC Xc XC Y
F2
XCXC XCY XCXc XcY

Normal ♀ Normal ♂ Carrier ♀ Colorblind ♂

25 % 25 % 25 % 25 %

6. Phenotype: Normal vision : Colorblind

3 : 1
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7. Genotype : Normal vision : Normal vision :Normal vision :Colorblind

♀ ♂ ♀ ♂
1 : 1 : 1 : 1
8. Conclusion: Colorblind father transmit disease to his grandson through
his carrier daughter .i.e. Criss-cross inheritance (F-D-GS)

 Haemophilia : Hereditary blood disease in which blood fails

to clot or clots very slowly due to deficiency of clotting factor (VIII/ IX)
1. Synonym: Bleeder‟s disease( Minor injuries causes continuous
bleeding)
2. Cause: X linked recessive gene Xh
3. Location of genes: Non homologous region of X chromosome
4. Genes responsible: XH: Dominant gene for normal clotting of blood
Xh: Recessive gene for Haemophillia
5. Genotypic representation:
Sex Normal Colorblind Carrier
Male XHY XhY -
Female XHXH XhXh XHXh

6. Presentation :
P1 ♂ ♀
Phenotype Haemophillic male X Normal female
Genotype XhY XHXH

Gametes Xh Y XH XH
F1 XHXh ♀ XHXh ♀ XHY ♂ XHY
Carrier Carrier Normal Normal
Phenotypically normal : Normal male
(50 %) (50 %)
P2 ♀ ♂
Phenotype Carrier female Normal male
Genotype XHXh XHY

Gametes XH Xh XH Y

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F2 XHXH XHY XHXh XhY

Normal ♀ Normal ♂ Carrier Haemophillic♂
♀
25 % 25 % 25 % 25 %

9. Phenotype: : Normal : Haemophillic

3 : 1
10. Genotype: Normal : Normal : Normal : Haemophillic
♀ ♂ ♀ ♂
1 : 1 : 1 : 1
11. Conclusion: Hemophilic father transmit disease to his
Grandson through his carrier daughter i.e.
Criss-cross inheritance (F-D-GS)

 Autosomal Inheritance /Autosome linked traits :

1. Autosome linked traits: Autosomes are responsible for expression
of somatic/body characters other than sex. The somatic traits
controlled by autosomes are known as autosome linked traits
2. Autosomal inheritance: Transmission of body characters other
than sex liked traits from parents to offspring through autosomes
called as autosomal inheritance.
3. Autosomal dominant Traits : Widow‟s peak , Huntington‟s disease
4. Autosomal recessive Traits: Phenyl ketonuria [ PKU] ,Cystic
fibrosis and Sickle cell anaemia.
a. Widow’s peak :
1. Definition : A prominent “V” shaped headline on forehead is known
as Widow‟s peak
2. Nature: It is autosomal dominant trait.
3. Occurrence : It occurs in both homozygous dominant individuals
[WW] and also in heterozygous/hybrid individuals[Ww]
4. Straight hair line: homozygous recessive individuals [ww] show
straight hairline i.e. no widow‟s peak.
5. Chances of Inheritance: Both male and female have equal chances
of inheritance .
b. Phenylketonuria [PKU] :
1. Definition: An inborn metabolic disorder in which excretion of
excess phenylalanine in urine
2. Nature : Autosomal recessive trait.
3. Occurrence : Homozygous recessive individuals .

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4. Mechanism: In homozygous recessive condition, there is no

production of enzyme phenylalanine hydroxylase. This enzyme
helps in conversion of amino acid phenyl alanine into tyrosine .
Due to absence of phenylalanine, phenyl alanine is not converted
into tyrosone .Due to this, phenyl alanine and its derivatives are
accumulated in blood and Cerebrospinal fluid.
5. Effect: If Affects development of brain and causes mental
retardation.

 Sex Determination in Human beings :

1. Type : XX-XY type
2. Chromosomes: Diploid chromosome number is 46 or 23 pairs
3. Autosomes: 22 identical pairs in male & female. Autosomes
Responsible for determination of body characters.
4. Sex chromosomes: 1 pair of sex chromosome (X & Y) Sex
chromosomes responsible for determination of sex
1. Male: Two heteromorphic Sex chromosomes(X & Y)
2. Female: Two Homomorphic sex chromosomes (X & X)
5. Genotype:
1. Male: 46(44A +XY) 2. Female: 46(44A+XX)

6. Presentation:

Sr. POINTS MALE FEMALE

No.
1. Presentation of AA (A=22) AA (A=22)
autosomes
2. Presentation of sex XY XX
chromosomes
3. Nature of sex Heteromorphic or Homomorphic or
chromosomes Dissimilar gene similar gene
4. Genotypes AAXY AAXX
5. Gametes AX and AY AX and AX
(Sperms)) (Egg)
6. Gametogenesis Spermatogenesis Oogenesis
7. Nature of Parents Heterogametic Homogametic
[produces two types [produces only
of sperms] one type of egg]

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7. Progeny: P1: Male X Female

AAXY X AAXX

Gametes: AX AY AX AX

F1: Punnette square checker board method

Gametes AX AY
AX AAXX AAXY
Female Male
AX AAXX AAXY
Male Male

8. Conclusion : Sex of child depends on type of sperm(male gamete)

Fertilizing the egg. Therefore father is responsible for
sex of a child and not mother.
9. Heterogamesis : Chromosomal mechanism of sex determination is
called as heterogamesis.
a) Male heterogamety b)Female heterogametey

 Sex determination in Birds [ZW-ZZ type]:

1. Type : ZW-ZZ type
2. Chromosome Numbers: 46
3. Autosomes: 22 pairs
4. Sex Chromosomes: 1 pair
5. A) Males: Homogametic and contains Homomorphic sex
chromosome ZZ
6. B) Females: heterogametic and contains Heteromorphic pair of sex
chromosomes ZW
7. Presentation:
Progeny: P1: Male Female
AAZZ X AAZW

Gametes : AZ AZ AZ AW

F1 : Punette square checker board method

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Gametes AZ AZ
AZ AAZZ AAZZ
Male Male
AW AAZW AAZW
Female Female

 Sex determination in Honeybees: Sex is determined by no.

of sets of chromosomes called as haplo- diploid sex determination.
o Haplo-diploid sex determination:
1. Fertilized egg: Fertilized eggs develops as female offspring‟s
(Queen and Worker) and shows diploid (2n=32) chromosome
number.
2. Unfertilized egg: unfertilized eggs develops as male offspring‟s (
Drone) and shows haploid (n=16) chromosome number .The
process is also known as parthenogenesis.

o Presentation:
Parents Drone X Queen
(n=16) (n=32)
Mitosis
Meiosis

(n=16) (n=16) (n=16)

Fertilization Partheno-
genesis

(2n=32) (n=16)

Female (2n) Male (n)

 Mendelian Disorder:- Thalassemia

1. Basic Fact: It is autosomal recessive inherited disorder characterized
by decreased synthesis of either α and β globulin chain of Hb A. It
results in deficiency of 1 chain and relative excess of other chain.
Haemoglobin is conjugated protein contains A and B chains. Each
chain contains α and β globulin subunits. Thalassemia is
quantitative abnormality of polypeptide globulin chain synthesis.
2. Subtypes:

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1. α Thalassemia: Deficient synthesis of α globulin subunits

2. β Thalassemia: Deficient synthesis of β globulin subunits
3. Chromosomes responsible :
1. Chromosome no.16: Genes codes for α globulin chain.
2. Chromosome no.11: Genes codes for β globulin chain.
4. Symptoms:
1. Anemia
2. Jaundice
3. Variation in size and shape of RBC‟s
4. Enlargement of spleen
5. Treatment:
1. Massive blood transfusion
2. Bone marrow transplantation.

 Chromosomal Disorder:- Down’s Syndrome/

21st Trisomy : 22A+1A +XY =47 chromosomes
1. 21st Trisomy: Presence of an additional chromosome on 21st pair of
chromosome is 21st trisomy. In this condition, there is presence of 3
homologous chromosomes instead of 2 on 21st chromosome number
so also called as 21st trisomy.
2. Mangoloid idiocy/ Mangolism: Down‟s syndrome shows facial
characters like mangol people so also called as mongolism.
3. Type of disease: Congenital disease.
4. Cause:
1. Aneuploidy (addition /deletion of one or two chromosomes in
diploid chromosome number) due to late marriages.
2. Failure of separation of chromosomes/non –disjunction
during meiosis.
5. Symptoms:
1. Mental retardation
2. Upward slanting eyes.
3. Flat nose, open mouth and protruding tongue
4. Small and spherical head.
5. Short ,stubby hands and little fingers with only two
phalanges(Simian disease)
6. Small ears and teeth, arched palate.
7. Warty skin
8. Heart disorder, poor vision and problem in respiration.

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Sex Chromosomal abnormalities:

1. Turner syndrome(X monosomy) 2. Klinefilters syndrome
Sr. Points Turner syndrome Klinefilters syndrome
No
.
1. Synonym: Abnormal female Abnormal male syndrome
syndrome. Disomy of X chromosome
Monosomy of X
chromosome
Cause: Deletion of one „X‟ Presence of Extra „X‟
chromosome chromosome
2. Karyotype: 45 chromosomes 47 chromosomes
3. Genotype: 44A + XO 44A+ XXY
4. Phenotype: Female Male

5. Specialty: Show male secondary Show female secondary

sexual characters and sexual characters and
usually infertile usually sterile
6. Cause: Non-disjunction of X Disjunction of extra X
chromosome of either chromosome of either
Male and female X Male and female X
chromosome during chromosome during
meiosis meiosis
7. Symptoms: 1. Ovaries are not well 1. Testes are small, soft
developed and with excessive
2. Breast development fibrous tissue.
absent 2. Breast development
3. Pubic hair reduced like female
4. Broad, shield shaped [ Gynaecomastia]
chest, webbed neck. 3. Pubic hair and body
5. Absence of menstrual hairs not well
cycle developed.
6. Low set of ears 4. Tall individuals with
 Turner syndrome is long limb
fatal in early 5. Higher pitched voice
pregnancy like female

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