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Inheritance and variation

3.1 Chromosomes and Mechanism of Inheritance:

Inheritance

Passing genetic information from one generation to the next is called heredity or
inheritance. The process of inheritance was studied and understood even before
chromosomes were seen or genes were discovered.

Gregor Mendel (Moravia, 1822)

Mendel was the first to correctly explain the mechanism of inheritance using the
hybridisation technique. Using statistical methods, Mendel studied 7 traits in the Garden
Pea plant (Pisum sativum). Mendel proposed the principles of heredity, which later
became the fundamental laws of inheritance as confirmed by Correns in 1900.

He suggested that traits are not passed on physically, but through certain elements
present in the gametes. Mendel called these elements “factors”, which control the
expression of specific traits. He explained that these factors are discrete units, now known
as genes. They exist in pairs in parents and separate from each other during gamete
formation without mixing.

Reasons for Mendel’s Success:

1. He designed his experiments very carefully and used large sample sizes for
accuracy.

2. He recorded detailed observations, counted the number of plants of each type, and
analysed results using ratios.

3. In pea plants, contrasting characters are easy to identify.

4. Each of the seven traits studied in pea plants was controlled by a single factor,
located on different chromosomes, and passed on from one generation to the
next.

5. He introduced the important concepts of dominance and recessiveness in

inheritance.
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3.2 Genetic Terminology:

1. Character: A specific feature of an organism, e.g., height of the stem in a plant.

2. Trait: A detectable form or variant of a character that is inherited, e.g., tall or

dwarf.

3. Factor: A unit of heredity present in an organism that controls the inheritance

and expression of a character. These factors are passed from one generation
to the next through gametes. Today, these factors are known as genes.

4. Gene: A specific segment of DNA that controls the inheritance and expression
of a character.
5. Alleles (Allelomorphs): Different alternative forms of the same gene are
called alleles. They are found at the same position (locus) on homologous
chromosomes. Controls the trait of the character; the term "allele" is a shortened
form of "allelomorph."
6. Dominant: An allele that expresses itself even when paired with a different
allele (heterozygous condition). It is the allele that expresses itself in the F₁
generation and masks the effect of the other allele.
7. Recessive: An allele that remains unexpressed in the presence of a dominant
allele (heterozygous condition). It can only express when two identical copies
are present (homozygous condition). This allele does not appear in the F₁
hybrid.
8. Phenotype: The observable (external) physical appearance of an individual
for a particular trait. The combination of alleles determines it.
Example: In pea plants, tall and dwarf are two phenotypes. Tall may result from
TT or Tt, while dwarf results from tt.
9. Genotype: The genetic constitution or makeup of an organism with respect to
a trait. It represents the allele combination an individual carries.
Example: A tall pea plant may have genotype TT or Tt, while a dwarf plant has tt.
10. Homozygous (pure): An individual having identical alleles for a trait is called
homozygous. It breeds true for that trait and produces only one type of gamete.
Example: Tall (TT) or dwarf (tt).
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11. Heterozygous: An individual having contrasting alleles for a trait is called

heterozygous. It does not breed true and produces two types of gametes. Such
individuals are also called hybrids.
Example: F₁ generation hybrid Tt in pea plants.
12. Pure Line: A group of individuals that are homozygous and true-breeding for
one or more traits. They consistently pass the same character to the next
generation. Such a line originates from a single homozygous parent through
self-fertilisation.
13. Monohybrid: An individual heterozygous for a single trait, produced by
crossing two pure parents that differ in one pair of contrasting characters.
Example: A hybrid tall plant (Tt) obtained from a cross between pure tall (TT) and
pure dwarf (tt) parents.
14. F₁ Generation: Latin word filius (son) or filia (daughter). The first filial
generation consists of all offspring produced from a cross between two pure
parents with contrasting traits. It represents the first generation from such a
mating.
15. F₂ Generation: The second filial generation produced by self-fertilisation
(inbreeding) of F₁ offspring.
Example: Crossing two F₁ hybrids (Tt × Tt) produces the F₂ generation.
16. Punnett Square (Checkerboard): A probability table that shows all possible
combinations of gametes from opposite parents. It is a diagram used to predict the
types and ratios of offspring from a genetic cross.
17. Homologous Chromosomes: Chromosomes that are similar in size, structure,
and genetic content, found in diploid cells. They pair (synapse) during meiosis.
18. Back Cross: A cross between an F₁ hybrid and either of its parents.
Example: Tt × TT (pure tall) or Tt × tt (pure dwarf).
19. Test Cross: A cross between an F₁ hybrid and a homozygous recessive parent,
used to determine whether the hybrid is homozygous or heterozygous.
Example: Tt × tt.
20. Phenotypic ratio: It is the ratio of the offspring produced in F2 and subsequent
generations with respect to their physical appearance, e.g. 3Tall: 1 dwarf, is F2
‘Phenotypic ratio’ in a monohybrid cross.
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21. Genotypic ratio: It is the ratio of the offspring produced in the F2 and subsequent
generations with respect to their genetic makeup, e.g. 1 TT : 2Tt : 1 tt, is F2
genotypic ratio in a monohybrid cross.

22. Monohybrid cross: A cross between parents which differ in only one heritable
trait is called a monohybrid cross. e.g. cross of pure tall and pure dwarf plants.
Mendel performed the monohybrid cross between two pea plants with only one
pair of contrasting characters.

23. Dihybrid cross: A cross between parents differing in two heritable traits is
called a dihybrid cross, e.g. cross of a pure tall, round-seeded plant with a dwarf,
wrinkled-seeded plant. Mendel also performed the dihybrid cross between pea
plants that differed in two pairs of contrasting characters.

Punnett Square: TtRr × TtRr

TR Tr tR tr
TR TTRR TTRr TtRR TtRr
Tr TTRr TTrr TtRr Ttrr
tR TtRR TtRr ttRR ttRr
tr TtRr Ttrr ttRr ttrr
Genotypes — samples (from the 16 boxes)
TTRR : 1: TTRr : 2: TTrr : 1 : TtRR : 2 : TtRr : 4: Ttrr : 2 :ttRR : 1: ttRr : 2 : ttrr : 1
Genotypic ratio
1:2:1:2:4:2:1:2:1
Phenotypes — counts & ratio
Dominance rules: T _ = Tall, tt = dwarf; R _ = Round, rr = wrinkled
Tall, Round (T_ R_) = 9/16
(TTRR + TTRr + TtRR + TtRr → 1 + 2 + 2 + 4 = 9)
Tall, Wrinkled (T_ rr) = 3/16
(TTrr + Ttrr → 1 + 2 = 3)
Dwarf, Round (tt R_) = 3/16
(ttRR + ttRr → 1 + 2 = 3)
Dwarf, Wrinkled (tt rr) = 1/16
(ttrr → 1)
Phenotypic ratio
9:3:3:1
(Tall-Round : Tall-Wrinkled : Dwarf-Round : Dwarf-Wrinkled)
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Table 1 Summary of Basic Genetic Terminology with Definitions and Examples:

Terminology Definition Example

A specific feature of an organism. Height of stem in Pisum

Character
sativum.

Trait Detectable form/variant of a character. Tall or dwarf stem.

A unit of heredity controlling a character Mendel’s “factors” for height.

Factor
(now called a gene).

Segment of DNA controlling inheritance & Gene for stem height.

Gene
expression of a character.

Alternative forms of the same gene, present at T (tall) and t (dwarf).

Alleles the same locus on homologous
chromosomes.

Allele that expresses even in heterozygous T (tall) masks t (dwarf).

Dominant
condition.

Allele that expresses only when identical tt = dwarf pea plant.

Recessive
alleles are present.

Physical expression of a trait determined by Tall or dwarf pea plants.

Phenotype
combination of genotype.

Genotype Genetic makeup of an organism for a trait. TT, Tt, or tt.

Homozygous Condition with identical alleles for a trait. TT (tall) or tt (dwarf).

Heterozygous Condition with contrasting alleles for a trait. Tt (tall hybrid).

Population of true-breeding individuals Self-fertilized TT or tt plants.

Pure Line
passing same character.

Monohybrid Individual heterozygous for one trait. Tt (from TT × tt cross).

First generation from cross of two pure TT × tt → all Tt (tall).

F₁ Generation
parents.
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F₂ Generation Second generation from selfing F₁ hybrids. Tt × Tt → 1 TT : 2 Tt : 1 tt.

A diagrammatic representation showing all Tt × Tt checkerboard.

Punnett Square
gamete combinations in a cross.

Homologous Chromosomes similar in size, structure, Human chromosome pair 1.

Chromosomes genes; synapse in meiosis.

Cross between an F₁ hybrid and one of its Tt × TT or Tt × tt.

Back Cross
parents.

Cross between an F₁ hybrid and a Tt × tt.

Test Cross
homozygous recessive to test the genotype.

Phenotypic Ratio Ratio of offspring by physical traits. 3 tall: 1 dwarf.

Genotypic Ratio Ratio of offspring by genetic makeup. 1 TT : 2 Tt : 1 tt.

Monohybrid Cross Cross between parents differing in one trait. Tall (TT) × Dwarf (tt).

Cross between parents differing in two traits. Tall round (TTRR) × dwarf
Dihybrid Cross
wrinkled (ttrr).

Table 2: Summary of Basic Genetic Terminology with Key words, Definitions and
Examples:

Category
Terminology Key words Example
(Nature)

Character Feature Feature, Organism Height of stem in pea plant.

Trait Feature Variant, Inherited Tall or dwarf stem.

Factor Unit Heredity, Control Mendel’s “factors” for height.

Gene Unit DNA, Expression Gene for stem height.

Alleles Unit Alternative, Locus T (tall) and t (dwarf).

Dominant Property Express, Mask T (tall) masks t (dwarf).

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Recessive Property Hidden, Homozygous tt = dwarf pea plant.

Phenotype Expression Appearance, Observable Tall or dwarf pea plants.

Genotype Expression Genetic, Constitution TT, Tt, or tt.

Homozygous Condition Identical, True-breeding TT (tall) or tt (dwarf).

Heterozygous Condition Contrasting, Hybrid Tt (tall hybrid).

Pure Line Population Homozygous, Consistent Self-fertilized TT or tt plants.

Monohybrid Condition Single, Cross Tt (from TT × tt cross).

F₁ Generation Population Filial, Offspring TT × tt → all Tt (tall).

F₂ Generation Population Selfing, Second Tt × Tt → 1 TT : 2 Tt : 1 tt.

Punnett Square diagrammatic Probability, Diagram Tt × Tt checkerboard.

checkerboard representation

Homologous Unit Pair, Similar Human chromosome pair 1.

Chromosomes

Back Cross Experiment Parent, Hybrid Tt × TT or Tt × tt.

Test Cross Experiment Recessive, Identify Tt × tt.

Phenotypic Ratio Physical, Proportion 3 tall : 1 dwarf.

Ratio

Genotypic Ratio Ratio Genetic, Proportion 1 TT : 2 Tt : 1 tt.

Monohybrid Experiment One, Contrasting Tall (TT) × Dwarf (tt).

Cross

Dihybrid Cross Experiment Two, Contrasting Tall round (TTRR) × dwarf

wrinkled (ttrr).
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Table 3. Mendel’s Seven Characters in Pisum sativum with Their Contrasting Traits
and Genotypes:

Dominant Genotype Recessive Genotype

Character
Trait (Dominant) Trait (Recessive)

Seed shape Round RR Wrinkled rr

Seed colour Yellow YY Green yy

Flower
Violet/Purple PP White pp
colour

Pod shape Inflated II Constricted ii

Pod colour Green GG Yellow gg

Flower
Axial AA Terminal aa
position

Stem length Tall TT Dwarf tt

3.3 Mendel’s Laws of Inheritance :

1. Law of Dominance

Statement:
“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”.

Explanation:

• In a pair of contrasting factors (alleles), one is dominant and the other is

recessive.

• The dominant allele expresses itself in the F₁ generation, while the recessive
allele is masked.
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• In F₂ generation, both alleles reappear in a specific ratio (3:1 in a monohybrid

cross).

• Example:

Parent cross: TT × tt

Gametes: T ×t

F₁ : Tt

F₁ Result: All Tt (Tall) → Dominant trait expressed.

2. Law of Segregation (Law of Purity of Gametes)

Statement:
“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”.

Explanation:

• Alleles do not mix or blend.

• During gamete formation, the two alleles of a trait separate and each gamete gets
only one allele (pure).

• Explains why the recessive trait reappears in F₂ generation.

Example:

F1 Parent: Tt × Tt

Gametes: T,t× T,t

F2 :

T t

T TT Tt

t Tt tt
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F₂ Result:

• Genotype ratio = 1 TT : 2 Tt : 1 tt

• Phenotype ratio = 3 Tall : 1 Dwarf

3. Law of Independent Assortment :

(Assort: To arrange or to divide into categories)

Statement:
“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 is the basic principle of genetics based on a dihybrid cross given by Mendel.

• Alleles of different genes (located on different chromosomes) assort

independently during gamete formation.

• Results in new combinations of traits.

• F₂ phenotypic ratio: 9:3:3:1

(Dihybrid Cross: TtYy × TtYy)

Parent cross: TtYy × TtYy

Gametes: TY, Ty, tY, ty × TY, Ty, tY, ty

TY Ty tY ty

TY TTYY TTYy TtYY TtYy

Ty TTYy TTyy TtYy Ttyy

tY TtYY TtYy ttYY ttYy

ty TtYy Ttyy ttYy ttyy

Result :

Phenotypic ratio: 9:3:3:1

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

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Table 4: Comparison of the Mendel’s Laws:

Aspect Law of Dominance Law of Segregation Law of Independent

Assortment

Statement When two “When two “When hybrid

homozygous homozygous possessing two (or
individuals with one individuals with one more) pairs of
or more sets of or more sets of contrasting factors
contrasting contrasting (alleles) forms
characters are characters are gametes, the factors in
crossed, the alleles crossed, the alleles each pair segregate
(characters) that (characters) that independently of the
appear in F1 are appear in F1 are other pair”.
dominant and those dominant and those
which do not appear which do not appear
in F1 are recessive”. in F1 are recessive”.

Cross Monohybrid cross (Tt Monohybrid cross (Tt Dihybrid cross (TtYy ×
Example × Tt) shows tall plants × Tt) → offspring ratio TtYy) → offspring ratio
dominate over dwarf. follows 3:1 follows 9:3:3:1 in F₂
phenotype, 1:2:1 generation.
genotype.

Phenotypic Only the dominant Both parental traits New combinations of

Expression trait is expressed in F₁ reappear in F₂ due to traits appear in F₂
generation. separation of alleles. (recombinants).

Generation Explains F₁ Explains F₂ Explains F₂ new

Focus expression. segregation pattern. combinations and
ratios.

Ratio F₁ all show dominant F₂ → Phenotypic ratio F₂ → Dihybrid ratio

Produced trait. 3:1, Genotypic ratio 9:3:3:1.
1:2:1.
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3.4 Back Cross and Test Cross

a. Back Cross

• F₁ individuals are usually selfed to obtain F₂ progeny.

• They can also be crossed with one of the original parents (either recessive or
dominant).

• Such a cross is called a Back Cross.

b. Test Cross

• Crossing of an F₁ hybrid with its homozygous recessive parent.

• Purpose: To determine genotype of an individual with dominant expression.

• Features:

o Simple, repeatable, and predictable.

o Distinguishes homozygous (pure) from heterozygous (hybrid).

Example (Pea plant – Flower Colour): Case 1: F₁ is Homozygous (PP)

All offspring = Violet → Parent is Homozygous

Case 2: F₁ is Heterozygous (Pp

Offspring ratio = 1 Violet : 1 White → Parent is

Heterozygous
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Comparison: Back Cross vs Test Cross

Feature Back Cross Test Cross

Definition Crossing F₁ with any one of the two Crossing F₁ with homozygous
parents (dominant or recessive). recessive parent.

Purpose To study inheritance and transfer To determine whether an

parental traits. individual is homozygous or
heterozygous.

Types Two types: with dominant parent / with Only one type: always with
recessive parent. recessive parent.

Result Depends on the parent used (all 100% dominant

dominant traits if crossed with (homozygous) OR 1:1 ratio of
dominant parent; segregation if dominant : recessive
recessive parent is used). (heterozygous).

Use Used in crop improvement and breeding Used in genetic analysis,

experiments. identification of genotype.

Neo-Mendelism
3.5 Deviations from Mendel’s Findings (Neo-Mendelism)

Mendel’s Generalisations:

1. Single trait → single gene → two alleles.

2. One allele is completely dominant over the other.

3. Genes for different traits assort independently (on different chromosomes).

Later Observations (Deviations):

• Post-Mendelian studies showed exceptions to these rules.

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• These are described as Neo-Mendelism, adding further understanding of

inheritance.

Gene Interactions:

The expression of a gene is not always independent; it can be modified or influenced by

another gene. Such relationships are called gene interactions, which are of two main
types:

I. Intragenic Interactions

• Occur between alleles of the same gene.

• Examples:

a. Incomplete dominance – neither allele is completely dominant, producing an

intermediate phenotype.

Definition:
Incomplete dominance is a type of inheritance in which neither allele of a gene
is completely dominant over the other, and both alleles express themselves
partially. As a result, the heterozygous condition produces an intermediate
phenotype that is different from both homozygous conditions.

• Key Points:
o The trait in the heterozygote appears as a blend or mixture of the two parental
traits.
o This does not mean the alleles have mixed or lost their identity; they can
separate again in the next generation.
o Example: Mirabilis jalapa (Four O’Clock plant) – Red (RR) × White (rr) → Pink
(Rr).

Cross: Red (RR) × White (rr)

F₁ Generation: All Pink (Rr)

F₂ Generation (Rr × Rr):

R r
+------+------+
R | RR | Rr |
+------+------+
r | Rr | rr |
+------+------+

• Genotype ratio: 1 RR : 2 Rr : 1 rr
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• Phenotype ratio: 1 Red : 2 Pink : 1 White

b. Co-dominance – both alleles express equally in the heterozygote.

Definition:
Co-dominance is a type of inheritance in which both alleles of a gene pair are
fully expressed and independently visible in the heterozygous condition,
without blending. Thus, the F₁ hybrid exhibits both parental traits side by
side.

• Key Points:
o Both alleles are equally dominant, and neither masks the other.
o The phenotype of the heterozygote shows the effect of both alleles
simultaneously.
o Example: Human AB blood group – genotype IᴬIᴮ shows the presence of
both A and B antigens on red blood cells.

Cross: Blood group A (IᴬIᴬ) × Blood group B (IᴮIᴮ)

F₁ Generation: All AB (IᴬIᴮ)

Punnett Square (Iᴬ × Iᴮ):

Iᴬ Iᴬ
+------+------+
Iᴮ | IᴬIᴮ | IᴬIᴮ |
+------+------+
Iᴮ | IᴬIᴮ | IᴬIᴮ |
+------+------+

• All offspring = AB blood group (both antigens expressed equally).

Feature Incomplete Dominance Co-dominance

Definition Both alleles express partially; Both alleles express equally and
neither is completely independently.
dominant.

F₁ Hybrid Shows an intermediate Shows both parental traits

Expression phenotype (blending). together (no blending).

Phenotypic 1 : 2 : 1 (same as genotypic No fixed ratio (depends on alleles

Ratio in F₂ ratio). involved).
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Example Mirabilis jalapa flower color: Human AB blood group: IᴬIᴮ

Red (RR) × White (rr) → Pink genotype → both A and B antigens
(Rr). expressed.

Key Point Expression is mixed Expression is side-by-side (both

(intermediate). traits visible).

o Multiple alleles – more than two alternative forms of a gene, e.g., human
blood groups.

ii. Intergenic (Non-allelic) Interactions

• Occur between alleles of different genes located on the same or different

chromosomes.

1. Multiple Alleles

• Definition: When a single gene has more than two alternative forms (alleles),
they are called multiple alleles.

• Although more than two alleles exist in the population, an individual can possess
only two (diploid condition).

• Discovered first in the coat colour of rabbits.

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Example: ABO Blood Group in Humans

• Controlled by gene I with three alleles: Iᴬ, Iᴮ, i.

• Iᴬ and Iᴮ are codominant, while i is recessive.

• Possible combinations and phenotypes:

ABO Blood Group System

Genotype Phenotype
IᴬIᴬ , Iᴬi Group A
IᴮIᴮ , Iᴮi Group B
IᴬIᴮ Group AB
ii Group O
Significance:

o Explains blood transfusion compatibility.

o Shows how one gene can exist in several forms, producing more variety
than simple dominance.

2. Pleiotropy

From Greek:

• pleion = “more”

• tropos=“change”
→ meaning “one gene, many effects.”

• Definition: When a single gene controls multiple traits (characters), it is called

pleiotropy.

• Happens because the protein/enzyme coded by the gene may be involved in

different metabolic pathways.

• The ratio is 1:2 instead of 3:1 because of the death of recessive homozygote.

Examples

1. Sickle-cell anemia (HBs gene mutation):

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o Change in hemoglobin β-chain.

o Leads to abnormal RBC shape (sickle-like).

o Causes anemia, reduced oxygen transport, and malaria resistance.

Sickle Cell Gene Effect

Gene Mutation (HBB)
↓
Defective Hemoglobin
↓
RBC Shape Changes (Sickle)
↓
Symptoms: Anemia + Resistance to Malaria

3.6 Chromosomal Theory of Inheritance :

• Due to advancements in microscopy, scientists observed cell division and the

structure of chromosomes.

• Proposed by: Sutton & Boveri (1902–1903).

• Key Idea: Genes are located on chromosomes, and their behaviour during
meiosis explains inheritance.

Main Postulates

1. Chromosomes are present in pairs in somatic cells

2. During gamete formation, homologous chromosomes pair, segregate and assort
independently.
3. Thus, each gamete contains only one chromosome from a pair.
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4. The nucleus of gametes contains chromosomes, which carry all hereditary traits.
5. The fusion of a haploid male gamete and a haploid female gamete restores the
diploid number of chromosomes of the species.

3.7 Chromosomes :

“Chromosomes are filamentous structures present in the eukaryotic nucleus, composed

of DNA and proteins, and they carry the genetic information in the form of genes.”

coined by W. Waldeyer (1888)

1 Properties:
• Size: 0.1 to 33 micrometres in length and 0.2 to 2 micrometers in thickness.
• Chromosomes are visible during cell division.
• Capable of self-replication.
• Plays a vital role in heredity, mutation, variation, and evolutionary
development of eukaryotic species.
2 Function: Chromosomes mainly act as carriers of heredity.
3 Number of chromosomes
• specific and constant for a particular species
• Ploidy: degree of repetition of the primary basic number of chromosomes
(i.e. ‘x’)
• Euploidy: When the chromosome number in a cell is an exact multiple of
the primary basic number, then it is called euploidy
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• Triploid (3n): Banana, seedless watermelon

• Tetraploid (4n): Potato, cotton, groundnut
• Pentaploid (5n): Dog rose (Rosa canina)
• Hexaploid (6n): Wheat, kiwi, oat
4 Structure of chromosome :
Chromosomes are best visible under a microscope when the cell is at the
metaphase stage. At this stage, chromosomes are highly condensed.

1. Primary Constriction (Centromere)

• Each chromosome has a primary constriction called the centromere.
• At the centromere lies a disc-shaped plate called the kinetochore.
• Function: The spindle fibres attach to the kinetochore during cell division,
ensuring proper movement of chromosomes.
2. Secondary Constriction
• Some chromosomes possess one or two additional constrictions apart
from the centromere.
• These are called secondary constrictions.
• Secondary Constriction I:
o Involved in the organization of the nucleolus during interphase.
• Secondary Constriction II:
o Found in very few chromosomes.
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o Bears a small fragment called the satellite body (SAT body).

3. Chromatid and Chromonema

• Each chromosome consists of two chromatids (sister chromatids).
• Each chromatid contains a long, slender, unbranched, highly coiled DNA
thread called the chromonema, which extends throughout its length.
• Each chromatid contains one double-stranded DNA molecule that runs
from one end of the chromosome to the other.

Types of Chromosomes (Based on Position of Centromere)

( Position of centromere, Length of arm, shape of chromosome)

1. Metacentric Chromosome

• Centromere is present in the middle.

• Both arms of the chromosome are equal in length.

• Appears V-shaped during anaphase.

2. Submetacentric Chromosome

• Centromere is slightly away from the middle.

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• Produces one short arm and one long arm.

• Appears L-shaped during anaphase.

3. Acrocentric Chromosome

• Centromere is near one end.

• Results in a very short arm and a very long arm.

• Appears J-shaped during anaphase.

4. Telocentric Chromosome

• Centromere is at the terminal end.

• Chromosome has only one arm.

• Appears I-shaped during anaphase.

Table: Types of Chromosomes (Based on Position of Centromere)

Type of Position of Shape of

Length of Arms
Chromosome Centromere Chromosome

Two arms of equal

Metacentric In the middle V-shaped
length

Slightly away One arm longer and

Submetacentric L-shaped
from middle one shorter

One arm very long,

Acrocentric Near one end J-shaped
one very short

At the terminal Chromosome has only

Telocentric I-shaped
end one arm

Telomeres

• The ends of chromosomes (chromatids) are called telomeres.

• Function: Protect chromosome ends and prevent them from fusing with one
another.
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Sex Chromosomes (Allosomes)

Definition

• Chromosomes responsible for determination of sex are called sex

chromosomes (allosomes).

• In humans and other mammals, these are the X and Y chromosomes.

X Chromosome

• Shape & Size: Straight, rod-like, longer than Y chromosome.

• Type: Metacentric.

• Chromatin Content:

o Large amount of euchromatin (extended region, metabolically active).

o Small amount of heterochromatin (condensed region).

• Activity: Genetically more active due to higher euchromatin content.

Y Chromosome

• Shape & Size: Shorter than X chromosome.

• Type: Acrocentric.

• Chromatin Content:

o Small amount of euchromatin (less active).

o Large amount of heterochromatin (inert region).

• Activity: Genetically less active or inert compared to X chromosome.

Homologous vs. Non-homologous Regions

• Homologous regions: Present on both X and Y; contain similar genes (e.g.,

pseudoautosomal regions). Crossing over occurs at homologous regions of both
chromosomes
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• Non-homologous regions: Present only on one chromosome; contain different

genes (responsible for sexual dimorphism). X chromosome has larger Non
homologous Region than Y.

The difference between X and Y chromosome

Feature X Chromosome Y Chromosome

Size Larger, longer Smaller, shorter

Centromere Metacentric Acrocentric

position

Chromatin Large amount of euchromatin Large amount of

content (active) heterochromatin (inert)

Genetic activity Genetically more active Genetically less active /

partially inert

Non-homologous Longer, contains more genes Shorter, contains fewer genes

regions (X-linked genes)
(Y-linked genes, e.g., SRY)

Function Carries many essential genes, Carries male-determining

including non-sex traits genes and few others
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• Crossing over occurs only between homologous regions of the X and Y

chromosomes (pseudoautosomal regions).

• This ensures proper pairing and segregation of sex chromosomes during meiosis.

Non-homologous Regions

• X chromosome non-homologous region:

o Longer than that of Y.

o Contains more genes, many of which are X-linked genes.

• Y chromosome non-homologous region:

o Shorter than that of X.

o Contains fewer genes, many of which are Y-linked genes (e.g., SRY gene
controlling male sex determination).

Gene Distribution

• X-linked genes → located on the non-homologous region of the X chromosome.

• Y-linked genes → located on the non-homologous region of the Y chromosome.

3.8 Linkage and crossing over:

Linkage
1. Definition
• Linkage is the tendency of two or more genes located on the same chromosome to
be inherited together during cell division.
• Genes that are located close to each other on a chromosome are called linked genes.
2. Discovery
• Discovered in plants by Bateson and Punnett (Sweet pea experiments).
• Discovered in animals by T. H. Morgan (Drosophila studies).
3. Concept
• Since chromosomes are carriers of heredity, genes present on the same chromosome
do not assort independently.
• Instead, they tend to be transmitted together from parent to offspring.
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4. Types of Linkage
I. Complete Linkage
• Definition: When linked genes are very close together on a chromosome and do not
separate (no crossing over).
o Only parental traits are inherited.
o No new combinations appear in offspring.
• Example: Complete linkage in the X chromosome of Drosophila males.
II. Incomplete Linkage
• Definition: When linked genes are located farther apart on the same chromosome and
may separate due to crossing over.
o New gene combinations (recombinants) appear in the offspring.
o Along with parental traits, new traits are also seen.
• Example: In Zea mays (maize), the genes for colour and shape of grain show
incomplete linkage.

Feature Complete Linkage Incomplete Linkage

Genes located farther

Genes located very close
apart on the same
together on the same
Definition chromosome, so
chromosome, so no
crossing over may
crossing over occurs.
occur.

Linked genes are usually

Linked genes are
Inheritance inherited together, but
always inherited
pattern crossing over produces
together.
recombinants.

Both parental and new

Result in Only parental traits
(recombinant) traits
offspring appear.
appear.

Present (new
Absent (no new
Recombination combinations formed
combinations formed).
due to crossing over).

Genes are Genes are

Strength of
completely/strongly incompletely/weakly
linkage
linked. linked.

X chromosome of Zea mays (maize) –

Drosophila males genes for colour and
Example
(showing complete shape of grain show
linkage). incomplete linkage.
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5. Significance of Linkage
• Helps in understanding gene arrangement on chromosomes.
• Provides evidence for the chromosomal theory of inheritance.
• Useful in genetic mapping (locating genes on chromosomes).
6. Linkage Groups
• Definition: All the linked genes present in a particular chromosome together form a
linkage group.
• Rule: The number of linkage groups in a species = haploid number of chromosomes.
Examples
• Drosophila melanogaster → 4 linkage groups (corresponds to 4 pairs of chromosomes).
• Garden pea (Pisum sativum) → 7 linkage groups (corresponds to 7 pairs of
chromosomes).
7. Sex Linkage (Sex-linked Inheritance)
• Definition: The inheritance of genes located on X or Y chromosomes from parents to
offspring.
• Types:
o X-linked
o Y-linked
o XY-linked
Kinds of Sex Linkage
a. Complete Sex Linkage
• Genes are located on the non-homologous regions of X and Y chromosomes.
• Crossing over does not occur, so genes are inherited together.
• Examples:
o X-linked traits: Haemophilia, Red-green colour blindness, Myopia, Ichthyosis.
o Y-linked traits: Hypertrichosis, H-Y antigen gene.
b. Incomplete Sex Linkage
• Genes are located on the homologous regions of X and Y chromosomes.
• Crossing over occurs, so genes do not inherit together.
• Examples: Total colour blindness, Nephritis, Retinitis pigmentosa.
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2. Crossing Over
• Definition: Process that produces new gene combinations (recombinants) by
exchange of corresponding segments between non-sister chromatids of homologous
chromosomes.
• Stage: Occurs during pachytene of prophase I of meiosis.
• Coined by: The Term crossing over was given by T. H. Morgan.
Steps of Crossing Over
1. Synapsis – Pairing of homologous chromosomes.
2. Tetrad formation – Four chromatids come together.
3. Crossing over – Exchange of chromatid segments between non-sister chromatids.
4. Terminalization – Chiasmata move towards the chromosome ends.
Significance
• Crossing over is universal (except in Drosophila males).
• Creates genetic recombination → increases variation.
• Variation is essential for natural selection and evolution.

Morgan’s Experiments: Linkage and Crossing Over

1. Why Morgan chose Drosophila melanogaster (fruit fly)?
• Easy to culture in laboratory.
• Short life span (~2 weeks).
• High rate of reproduction.
• Large number of visible traits (eye colour, body colour, wing type).
• Few chromosomes (2n = 8), making genetic studies easier.

2. Experimental Design
• Morgan studied dihybrid crosses in Drosophila, similar to Mendel’s pea plant
experiments.
• Aim: To study sex-linked genes and their inheritance.
Example Cross:
• Parental cross (P):
o Yellow-bodied, white-eyed female (mutants) × Brown-bodied, red-eyed male
(wild type).
• F1 Generation:
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o All flies showed wild type phenotype (brown body, red eyes).
o Indicates dominance of wild traits.
• F2 Generation (F1 intercross):
o Did not show Mendel’s expected 9:3:3:1 ratio.
o Instead, observed a higher proportion of parental combinations and a smaller
number of new (recombinant) combinations.

Cross I
• Genes: y (yellow body colour) and w (white eye colour).
• Very closely linked on the same chromosome.
• Results:
o Parental types: 98.7% (almost no recombination).
o Recombinants: 1.3% (rare crossing over).
• Indicates complete or tight linkage, where genes are almost always inherited together.
Cross II
• Genes: w (white eye) and m (miniature wing).
• Located farther apart on the same chromosome.
• Results:
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o Parental types: 62.8%

o Recombinants: 37.2%
• Indicates incomplete linkage, as crossing over occurs more frequently.
Key Concepts
• Linkage: Genes on the same chromosome tend to be inherited together.
• Crossing Over: Exchange of segments between non-sister chromatids during prophase I
(pachytene stage) of meiosis, producing recombinant gametes.
• Genes in close proximity show fewer recombinants (Cross I), while distant genes show
higher recombination frequencies (Cross II).
Observations
• Genes for body color and eye color were linked.
• Parental types dominated over recombinants.
• Limited recombinants arose due to crossing over.
Conclusion
• Linkage ensures inheritance of parental combinations.
• Crossing over between homologous chromosomes produces recombinants, showing
incomplete linkage.
• Morgan’s experiments provided clear evidence of linkage and crossing over.
Significance of Morgan’s Experiments
• Offered cytological proof of the chromosomal theory of inheritance.
• Led to the development of linkage maps using recombination frequency.
• Demonstrated that linkage modifies Mendel’s law of independent assortment,
highlighting exceptions.

3.9 Autosomal Inheritance

Transmission of body characters other than the sex linked traits from parents to their offspring
through autosomes is called autosomal inheritance.
1. Definition
• Autosomal traits are characters determined by genes located on the autosomes (non-
sex chromosomes).
• These traits can be influenced either by dominant or recessive alleles.
• Since autosomes are present in both sexes equally, these traits show equal
inheritance in males and females.
2. Categories of Autosomal Traits
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A. Autosomal Dominant Traits

• A single dominant allele is sufficient to express the trait.
• Individuals with homozygous dominant (AA) or heterozygous (Aa) genotype exhibit
the trait.
• Example traits/disorders:
o Widow’s peak
o Huntington’s disease
B. Autosomal Recessive Traits
• Trait is expressed only when both alleles are recessive (aa).
• Carriers (Aa) do not express the trait but can pass it to offspring.
• Example disorders:
o Phenylketonuria (PKU)
o Cystic fibrosis
o Sickle-cell anaemia
3. Example: Widow’s Peak
• Description: A prominent “V”-shaped hairline in the middle of the forehead.
• Genetic basis: Controlled by an autosomal dominant allele (W).
• Genotypes:
o WW or Ww → Widow’s peak present.
o ww → Straight hairline (no widow’s peak).

• Inheritance pattern:
o Appears in both sexes equally.
o Can be inherited from either parent, as the gene is on an autosome.
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2. Phenylketonuria (PKU)
• Type: Autosomal recessive disorder (inborn metabolic disease).
• Cause: Mutation in recessive autosomal genes → enzyme phenylalanine hydroxylase
not produced.
• Normal role of enzyme: Converts amino acid phenylalanine → tyrosine.
• Defect:
o Phenylalanine not converted.
o Accumulation of phenylalanine and derivatives in blood and cerebrospinal
fluid (CSF).
• Effects:
o Severe damage to brain development.
o Mental retardation.
o Excretion of excess phenylalanine in urine → hence called Phenylketonuria.
• Inheritance: Appears in both sexes equally, but only in homozygous recessive
individuals.

Key Point
• Autosomal recessive traits (like PKU) → appear in both sexes equally, often skip
generations.
• X-linked recessive traits (like Colour blindness) → more frequent in males, rare in
females.

3.10 Sex-Linked Inheritance

1. Definition
• Sex-linked genes → Genes located on the non-homologous region of sex
chromosomes (X or Y).
• Sex-linked traits → Traits determined by these genes.
• Sex-linked inheritance → Transmission of sex-linked genes from parents to offspring.

2. Types of Sex-Linked Genes

• X-linked genes: Located on the non-homologous region of X chromosome.
• Y-linked genes: Located on the non-homologous region of Y chromosome.

3. X-linked Genes
• Present on X chromosome but absent on Y chromosome.
 [Link]

• Inheritance pattern differs between sexes:

In Females (XX):
• Two X chromosomes present.
• Expression of a recessive X-linked trait requires two recessive alleles (XcXc).
• If only one recessive allele is present (XCXc), its effect is masked by the dominant allele
on the other X chromosome.
• Such females are carriers → phenotypically normal but can transmit the disorder.

Examples:
1. Colour Blindness
• Type: X-linked recessive disorder.
• Cause: Recessive gene (Xc) prevents formation of cone cells in retina → inability to
distinguish red and green colours (appear grey).
• Inheritance pattern:
o Males (XY): Only one X chromosome, so a single recessive gene (XcY) makes
them colour blind.

o Females (XX): Need two recessive alleles (XcXc) to be colour blind.

o Carrier females (XCXc): Normal vision, but can pass gene to offspring.

• Frequency: More common in males than females (because males are hemizygous for X
chromosome).

Sex Normal Vision Carrier Colour Blind

Male XCY – XcY

Female XCXC XCXc XcXc

Example: Inheritance through Marriage

Cross 1: Colour blind male (XcY) × Normal female (XCXC)

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• F1 Progeny:

o Sons: XCY → Normal vision.

o Daughters: XCXc → Normal vision but carriers.

Thus, disorder skips generations when carried by females.

In Males (XY):
• Only one X chromosome is present.
• If the X chromosome carries a recessive allele (XcY), the trait is expressed, because
there is no corresponding dominant allele on Y chromosome.
• Hence, X-linked traits are more frequent in males than in females.
Case 2: carrier female (daughter) and normal male
 [Link]

From above example:

• X linked recessive gene for colour blindness is inherited from colourblind father to his
grandson through his daughter.
• This type of inheritance is called as cris-cross inheritance.

Haemophilia (Bleeder’s Disease)

Definition
• An X-linked recessive disorder where blood fails to clot normally or clots very slowly.
• Leads to prolonged bleeding even from minor injuries.
Cause
• Deficiency of blood clotting factors:
o Factor VIII → Haemophilia A (classical type)
o Factor IX → Haemophilia B (Christmas disease)
• Caused by recessive gene located on the non-homologous region of X chromosome.
Inheritance
• X-linked recessive:
o Males (XY) are more frequently affected → because they have only one X
chromosome, no corresponding allele on Y to mask the defect.
o Females (XX) usually carriers if they inherit one defective gene; only suffer
disease if both X chromosomes carry the recessive allele (very rare).

Symptoms
• Excessive or continuous bleeding from small cuts/injuries
• Spontaneous internal bleeding (into joints, muscles, brain)
• Delayed wound healing
• Bruising easily
Other Names
• “Bleeder’s disease” — due to uncontrolled bleeding tendency
Key Points
• Dominant allele = normal clotting
• Recessive allele = defective clotting → haemophilia
• More common in males, rare in females
• Historically known as the “royal disease” (found in Queen Victoria’s descendants)
 [Link]

Case 1: Haemophilic male and normal female

Case 2. Carrier female (daughter) and normal male:

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4. Examples of X-linked Traits

• Haemophilia
• Red-green colour blindness
• Night blindness
• Myopia (near-sightedness)
• Muscular dystrophy
•

Comparative chart of Autosomal and Sex Inheritance

Feature Autosomal Inheritance Sex-Linked Inheritance

Chromosomes Genes located on autosomes Genes located on the sex

involved (22 pairs of non-sex chromosomes (X or Y)
chromosomes)

Traits controlled Traits other than sex Traits determined by genes present
determination (body traits) on X or Y chromosomes

Occurrence in Traits appear in both males X-linked traits: more common in

sexes and females equally males (as they have only one X); Y-
linked traits: only in males

Expression of Both sexes need homozygous In females, two recessive X-linked

recessive traits recessive condition for trait to genes needed; in males, one recessive
express (e.g., PKU, cystic X gene is enough (hemizygous
fibrosis) condition)

Carriers No carrier condition, because Carrier females possible

autosomal traits express equally (heterozygous with one defective X
in both sexes gene); males cannot be carriers for
X-linked traits

Transmission Trait passes from parents to Trait passes through sex

offspring through autosomes chromosomes (X or Y)

Examples Widow’s peak, Huntington’s – (X-linked dominant disorders are

(dominant) disease rare, e.g., vitamin D–resistant rickets)

Examples PKU, cystic fibrosis, sickle cell X-linked: haemophilia, colour

(recessive) anaemia blindness, night blindness, muscular
dystrophy; Y-linked: hypertrichosis
(hairy pinna of ear)

Inheritance Equal chance of inheritance in - X-linked recessive: mostly males

pattern both sexes affected; females may be carriers - Y-
linked: only father → son
transmission
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3.11 Sex determination:

The mechanism by which sex is established is termed as sex determination.

• In some species, both male and female reproductive organs are present in same
organism.
• They are bisexual or hermaphrodite or monoecious.
• species in which the organism has either male or female reproductive organs, is said to
be dioecious or unisexual.
• Humans are dioecious.
Henking in 1891, studied the spermatogenesis in Squash bug (Anasa tristis) and found that 50
% chromosome receives unpaired chromosome and 50% don’t.
He called it as x-body but later other scientist named it as X chromosome.
a. Sex Determination in human beings : (XX-XY Type)
• In human the mechanism of sex determination is XX-XY type.
• In each nucleus of somatic cell there are 46 chromosomes or 23 pairs of
chromosomes.
• Out of 46 chromosome 44 are autosomes which have body characters and 2 are for
the sex determination of individual.
• Means , 22 pairs are autosomes and one pair of sex chromosomes.

Individual Genotype Gametes Produced (meiosis product)

(oogenesis / Spermatogenesis)

Female 44 Autosomes + XX All gametes contain 22 autosomes + X

Male 44 Autosomes + XY 22 autosomes + X 22 autosomes + Y

Fertilisation Outcome:
Female Male Resulting Sex of Probability
Gamete Gamete Zygote Offspring
(Egg) (Sperm)
22A + X 22A + X 44A + XX Female 50%

22A + X 22A + Y 44A + XY Male 50%

Hence, the father is responsible for determining the sex of the child, not the mother.
Due to a lack of knowledge, women are often blamed for giving birth to a female child.
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b. Sex Determination in Birds: ZW-ZZ type

In birds, the chromosomal mechanism of sex determination is the ZW-ZZ type.
Here, females are heterogametic and produce two types of eggs; 50% eggs carry the Z
chromosome, while 50% eggs carry the W- chromosome.

Males are homogametic and produce one type of sperm.

Each sperm carries a Z chromosome.
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Thus, the sex of an individual depends on the kind of egg (ova) fertilised by the sperm.

c. Sex Determination in honey bees : haplo-diploid type

• In this case, the sex of an individual is determined by the number of sets of
chromosomes received.
• Females are diploid (2n=32) and males are haploid (n=16).
• The female produces haploid eggs (n=16) by meiosis, and the male produces
haploid sperm (n=16) by mitosis.
• If the egg is fertilized by sperm, the zygote develops into a diploid female
(2n=32) (queen and worker).
• Unfertilised egg develops into haploid male (n=16) (Drone) by way of
parthenogenesis

• A worker or a Queen is determined by the food they get.

• Diploid larvae, which get royal jelly as food, develop into queens (fertile females) .

• Other develops into workers (sterile females).

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3.12 Genetic Disorders :

Genetic Disorders are broadly grouped into two categories as, Mendelian disorders and
chromosomal disorders.

Category Cause Examples

Mendelian Alteration or mutation in a Thalassemia, Sickle-cell anaemia,

Disorders single gene Colour blindness, Haemophilia,
Phenylketonuria

Chromosomal Absence, excess, or Down’s syndrome, Turner’s

Disorders abnormal arrangement of syndrome, Klinefelter’s syndrome
chromosomes

Mendelian Disorders

1. Thalassemia: Mendelian disorder

• Thalassemia is an autosomal, inherited recessive disease
• Haemoglobin molecule is made of four polypeptide chains- 2 alpha (D) and 2 beta (E)
chains.
• The chains are controlled by two closely linked genes (HBA1 and HBA2) on
chromosome 16 while 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 betathalassemia.
• The disorder result in abnormal synthesis of haemoglobin.
• Symptoms :
▪ Anaemia,
▪ Pale yellow skin,
▪ Change in size and shape of rbcs,
▪ Slow growth and development,
▪ Dark urine, etc.
Chromosomal Disorders

2. Down’s syndrome: (21st trisomy)

▪ Named after the physician john langdon down who first described this autosomal
chromosomal disorder in 1866.
▪ Caused due to an extra copy of chromosome number 21st.
▪ Have 47 chromosomes instead of the normal number 46
▪ 21st trisomy occurs due to non-disjuction or failure of separation of chromosomes.
▪ (autosomes) during gamete formation.
▪ mothers who are over 45 years old have higher chances of non-disjunction.
▪ Symptoms:
o mild or moderate mental retardation
o skeletal development is poor
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o Distinct facial features like small head, ears and mouth, face is typically flat and
rounded with flat nose, open mouth and protruding tongue, eyes slant up and
out with internal epicanthal folds,
o flat hands and stubby fingers and palm is broad with single palmer crease.
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3. Turner’s Syndrome : (X monosomy / XO females)

caused due to non-disjunction of chromosome during formation of egg.
Turner’s syndrome has 44 autosomes with XO.
They are phenotypically female.
Symptoms:
✓ Short stature (height) and
✓ Webbed neck,
✓ Lower posterior hair line,
✓ Broad shield-shaped chest,
✓ Poorly developed ovaries and breasts and
✓ Low intelligence.
4. Klinefelter’s syndrome (XXY males) :

• It is caused by an extra X chromosome in males.

• Thus, the genotype of individuals is 44 + XXY.
• They are described as feminised males.
• An extra chromosome is a result of non-disjunction of the X chromosome during
meiosis in the formation of an ovum.

Symptoms:

✓ Tall with long arms

✓ Voice pitch is harsh
✓ Feminine development (development of breast i.e. Gynaecomastia)
✓ Underdeveloped testis
✓ No spermatogenesis, hence sterile

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