3.

1 Mendel’s Laws of Inheritance (10marks)

Introduction

●​ Gregor Johann Mendel, known as the “Father of Genetics,”

conducted experiments on garden pea plants (Pisum sativum)
between 1856–1863.
●​ He studied seven contrasting characters such as seed shape,
seed color, flower color, pod shape, pod color, flower position, and
stem height.
●​ Based on his observations, he formulated three fundamental
laws of inheritance:
1.​ Law of Dominance
2.​ Law of Segregation (Law of Purity of Gametes)
3.​ Law of Independent Assortment

1. Law of Dominance

●​ The law of dominance states that when two contrasting alleles

of a trait come together in a heterozygous individual, only one
allele expresses its effect (dominant), while the other remains
masked (recessive).
●​ The allele that expresses is called the dominant allele, and the
one that is hidden is called the recessive allele.
●​ This law explains the uniformity of the F₁ generation, where all
offspring resemble only the dominant parent.

Example – Monohybrid Cross

●​ Character studied: Seed shape in pea plant

●​ Round seed (R) = dominant; Wrinkled seed (r) = recessive.

Cross:

●​ Parents (P): RR (Round) × rr (Wrinkled)

●​ F₁ Generation: All offspring Rr (Round)
●​ F₂ Generation: On selfing F₁ (Rr × Rr)

Punnett Square for Monohybrid Cross

R r
R RR (Round) Rr (Round)
 r Rr (Round) rr (Wrinkled)

Result

●​ Genotypic ratio: 1 RR : 2 Rr : 1 rr (1 : 2 : 1)
●​ Phenotypic ratio: 3 Round : 1 Wrinkled (3 : 1)

👉 This supports the law of dominance, since Round trait (R)

expresses over wrinkled (r).

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

●​ The law of segregation states that alleles of a gene pair separate

(segregate) during gamete formation, and each gamete
receives only one allele, without mixing.
●​ Thus, gametes are pure with respect to a particular trait.
●​ This explains the reappearance of recessive characters in F₂
generation even though they were absent in F₁.

Example

●​ In the monohybrid cross of Round × Wrinkled, F₁ (Rr) produces

two types of gametes: R and r.
●​ During fertilization, these gametes combine randomly to give F₂
with a 1:2:1 genotypic ratio.
●​ This shows that alleles do not blend, but remain separate and
pure.

3. Law of Independent Assortment

●​ The law of independent assortment states that when two or more

pairs of contrasting characters are considered together, the
segregation of one pair of alleles occurs independently of the
other pair.
●​ This law applies when traits are controlled by genes located on
different chromosomes.

Example – Dihybrid Cross

●​ Characters studied:
○​ Seed shape: Round (R) / Wrinkled (r)
○​ Seed color: Yellow (Y) / Green (y)
Cross:

●​ Parents (P): RRYY (Round Yellow) × rryy (Wrinkled Green)

●​ F₁ Generation: All RrYy (Round Yellow)
●​ F₂ Generation: Selfing F₁ (RrYy × RrYy)

Gametes

●​ Each F₁ produces four types of gametes (RY, Ry, rY, ry) in equal
proportion.

Punnett Square for Dihybrid Cross

RY Ry rY ry
RY RRYY RRYy (Round RrYY (Round RrYy
(Round Yellow) Yellow) (Round
Yellow) Yellow)
Ry RRYy RRyy (Round RrYy (Round Rryy (Round
(Round Green) Yellow) Green)
Yellow)
rY RrYY (Round RrYy (Round rrYY rrYy
Yellow) Yellow) (Wrinkled (Wrinkled
Yellow) Yellow)
ry RrYy (Round Rryy (Round rrYy (Wrinkled rryy
Yellow) Green) Yellow) (Wrinkled
Green)

Result of Dihybrid Cross

●​ Phenotypic ratio:
○​ 9 Round Yellow : 3 Round Green : 3 Wrinkled Yellow : 1
Wrinkled Green
○​ Ratio = 9 : 3 : 3 : 1
●​ Genotypic ratio: More complex, with 16 combinations.
●​ This shows that seed shape and seed color assort
independently.

Significance of Mendel’s Laws

 1.​ They explain the transmission of hereditary traits from one
generation to the next.
2.​ They introduced the concept of dominant and recessive alleles.
3.​ They proved that hereditary factors remain discrete and do not
blend.
4.​ They form the basis of modern genetics and molecular biology.

Summary Table
Law Statement Example Ratio
Law of In a Round (R) vs F₂: 3:1
Dominance heterozygote, Wrinkled (r) (Phenotypic)
only one allele
(dominant)
expresses
Law of Alleles separate Round × F₂: 1:2:1
Segregation during gamete Wrinkled (Genotypic)
formation,
gametes are
pure
Law of Alleles of Round Yellow × F₂: 9:3:3:1
Independent different traits Wrinkled Green (Phenotypic)
Assortment assort
independently

3.2 Mendel’s Deviations

Mendel’s laws were based on pea plant characters, which showed clear
dominant–recessive inheritance.​
Later studies revealed that not all traits follow Mendel’s principles
strictly.​
Such exceptions are called Mendel’s deviations.​
They occur due to variations in dominance, gene interactions, multiple
alleles, or linkage.

The two most common deviations are:

1.​ Incomplete dominance

 2.​ Co-dominance

1. Incomplete Dominance

●​ In incomplete dominance, the dominant allele does not

completely mask the effect of the recessive allele.
●​ As a result, the heterozygous phenotype is intermediate
between the two homozygous phenotypes.
●​ This shows that one allele is not completely dominant over the
other.
●​ It is also called partial dominance or blending inheritance.

Example: Flower color in Mirabilis jalapa (Four o’clock plant)

●​ Parental cross (P):

○​ Red flower (RR) × White flower (rr).
●​ F1 generation:
○​ All flowers are Pink (Rr), showing intermediate phenotype.
●​ F2 generation:
○​ Ratio of phenotypes = 1 Red : 2 Pink : 1 White.
○​ Ratio of genotypes = 1 RR : 2 Rr : 1 rr.

Conclusion

●​ In incomplete dominance, phenotypic ratio = genotypic ratio

(1:2:1).
●​ This is different from Mendel’s monohybrid cross (3:1).

F2 Generation Punnett Square

R r

R RR (Red) Rr (Pink)

r Rr (Pink) rr (White)

●​ Genotypic ratio = 1 RR : 2 Rr : 1 rr
●​ Phenotypic ratio = 1 Red : 2 Pink : 1 White
Conclusion

In incomplete dominance, the heterozygote has an intermediate

phenotype (blending).

2. Co-dominance

●​ In co-dominance, both alleles express themselves equally in

the heterozygote.
●​ Unlike incomplete dominance, here the heterozygote shows both
parental traits simultaneously without blending.
●​ Neither allele is recessive; both are dominant together.

Example: Human ABO Blood Groups

●​ The ABO system is controlled by the I gene with three alleles:

○​ IA, IB, and i.
●​ IA and IB are co-dominant to each other, while i is recessive.
●​ Genotypes and phenotypes:
○​ IA IA or IA i → Blood group A.
○​ IB IB or IB i → Blood group B.
○​ IA IB → Blood group AB (both A and B antigens
expressed, co-dominance).
○​ ii → Blood group O.

Example: Coat color in cattle

●​ Cross between Red coat cattle (RR) and White coat cattle (WW)
produces Roan coat (RW).
●​ Roan shows both red and white hairs together (not blended).

Conclusion

●​ In co-dominance, the phenotypic ratio in F2 generation = 1:2:1,

similar to incomplete dominance.
●​ But the expression is both traits together, not intermediate.
○​

Punnett Square for Blood Group Cross (IAi × IBi)

 IA i

IB IAIB (AB) IBi (B)

i IAi (A) ii (O)

●​ Phenotypic ratio = 1 A : 1 B : 1 AB : 1 O
●​ Genotypic ratio = 1 IAIB : 1 IAi : 1 IBi : 1 ii

Example: Coat color in cattle

●​ Parental cross (P):​

Red coat (RR) × White coat (WW).​

●​ F1 generation:​
Roan coat (RW) with both red and white hairs present.​

F2 Generation Punnett Square

R W

R RR (Red) RW (Roan)

W RW (Roan) WW (White)

●​ Genotypic ratio = 1 RR : 2 RW : 1 WW
●​ Phenotypic ratio = 1 Red : 2 Roan : 1 White

Comparison Table
 Feature Incomplete Co-dominance
Dominance

Heterozygote Intermediate Both traits expressed

phenotype (blended) together

Example 1 Pink flower in Mirabilis Blood group AB

Example 2 Snapdragon flower Roan coat in cattle

color

Phenotypic ratio (F2) 1:2:1 1:2:1

Nature Partial dominance Equal dominance

3.3 Gene interactions (Deviation from Mendel’s

Ratios)
Mendel proposed 3:1 monohybrid, 9:3:3:1 dihybrid, and
27:9:9:9:3:3:3:1 trihybrid phenotypic ratios, based on independent
assortment and complete dominance.​
However, in real organisms, many factors cause modifications or
deviations from these expected ratios.

1. Linkage

●​ Definition: When genes are located close together on the same

chromosome, they are inherited together and do not assort
independently.
●​ Effect: Instead of forming new combinations, parental
combinations are favored.
 ●​ Example: Drosophila (fruit fly) eye color and wing shape genes
(Morgan’s experiment).
●​ Deviation: Ratio changes from 9:3:3:1 (independent) → to 3:1 or
a distorted ratio depending on crossing over.

2. Gene Interaction

●​ Genes may not always act independently; they can interact to

control a single trait.
●​ This modifies expected Mendelian ratios.
●​ Types of interactions and modified ratios:

Type of Interaction Modified Ratio Example

Complementary 9:7 Flower color in sweet

genes pea (Bateson &
Punnett)

Recessive epistasis 9:3:4 Coat color in mice,

albino condition

Dominant epistasis 12:3:1 Fruit color in summer

squash

Duplicate genes 15:1 Seed shape in maize

(redundancy)

Inhibitory genes 13:3 Feather color in fowl

Polymeric gene 9:6:1 Fruit shape in summer

interaction squash

1. Complementary Gene Interaction

Definition

Complementary interaction occurs when two different dominant genes

present at different loci interact to produce a new phenotype, which
neither of them can produce alone.
Example: Flower color in Sweet pea (Lathyrus odoratus)

●​ Two genes are involved: C and P.

●​ Both C and P must be present together to produce purple
flowers.
●​ If either gene is absent, the flowers will be white.

Punnett Square (F2 generation: CcPp × CcPp)

CP Cp cP cp

CP CCPP CCPp CcPP CcPp

(Purple) (Purple) (Purple) (Purple)

Cp CCPp CCpp CcPp Ccpp

(Purple) (White) (Purple) (White)

cP CcPP CcPp ccPP ccPp

(Purple) (Purple) (White) (White)

cp CcPp Ccpp ccPp ccpp

(Purple) (White) (White) (White)

●​ Phenotypic ratio = 9 Purple : 7 White

●​ This is called 9:7 complementary ratio.

2. Supplementary Gene Interaction (Recessive epistasis)

Definition
Supplementary interaction occurs when one dominant gene produces
a particular phenotype, but the other gene enhances or modifies its
expression.

Example: Flower color in Garden pea (Pisum sativum)

●​ Gene A = produces red color.

●​ Gene B = has no effect alone but enhances red color to become
deep purple.
●​ If A is present without B → red.
●​ If A and B are both present → purple.
●​ If A is absent (aa) → white, regardless of B.

Punnett Square (AaBb × AaBb)

AB Ab aB ab

AB AABB AABb AaBB AaBb

(Purple) (Purple) (Purple) (Purple)

Ab AABb AAbb (Red) AaBb Aabb (Red)

(Purple) (Purple)

aB AaBB AaBb aaBB aaBb

(Purple) (Purple) (White) (White)

ab AaBb Aabb (Red) aaBb aabb

(Purple) (White) (White)

●​ Phenotypic ratio = 9 Purple : 3 Red : 4 White

3. Duplicate Gene Interaction

Definition

Duplicate gene interaction occurs when two genes produce the same
effect independently, so that the presence of either one is enough to
produce the trait.

Example: Capsule shape in Shepherd’s purse (Capsella bursa-pastoris)

●​ Gene A and Gene B both control triangular capsule shape.

●​ If at least one dominant allele (A or B) is present → capsule is
triangular.
●​ Only when both genes are recessive (aabb) → capsule is ovoid.

Punnett Square (AaBb × AaBb)

AB Ab aB ab

AB AABB AABb AaBB AaBb

(Triangular) (Triangular) (Triangular) (Triangular)

Ab AABb AAbb AaBb Aabb

(Triangular) (Triangular) (Triangular) (Triangular)

aB AaBB AaBb aaBB aaBb

(Triangular) (Triangular) (Triangular) (Triangular)

ab AaBb Aabb aaBb aabb

(Triangular) (Triangular) (Triangular) (Ovoid)

●​ Phenotypic ratio = 15 Triangular : 1 Ovoid

3.4 Linkage

Definition

Linkage is the tendency of genes located close together on the same

chromosome to be inherited together during meiosis, because they
do not assort independently.

It was first discovered by William Bateson and R.C. Punnett (1906)

during their sweet pea (Lathyrus odoratus) experiments, and was later
explained by T.H. Morgan (1910) in Drosophila melanogaster.

Mendel’s Law vs Linkage

●​ According to Mendel’s Law of Independent Assortment, genes

for different traits assort independently.
●​ But if two genes are located close on the same chromosome,
they are linked and tend to be inherited together, deviating from
independent assortment.

Types of Linkage

1. Complete Linkage

●​ Definition:​
When genes are very closely located on the same
chromosome, crossing over does not occur between them, and
they are always inherited together.
●​ Characteristics:
○​ No new gene combinations are formed.
○​ Only parental combinations are found in gametes.
 ○​ It is very rare in nature.
●​ Example:
○​ Drosophila male shows complete linkage (no crossing
over).
○​ In maize, flower color and pollen shape genes show
complete linkage.

2. Incomplete Linkage

●​ Definition:​
When linked genes are separated occasionally by crossing
over, both parental and recombinant types are produced.
●​ Characteristics:
○​ Parental combinations are more frequent.
○​ Recombinants appear in smaller numbers.
 ○​ Crossing over depends on distance between genes.
●​ Example:
○​ In Drosophila melanogaster, the genes for body color and
wing shape show incomplete linkage.

3. Cis and Trans Arrangement of Linkage

●​ Cis arrangement (coupling):​

When two dominant alleles are present on one chromosome and
the corresponding recessive alleles on the homologous
chromosome.​

○​ Example: AB / ab.
○​ Tends to produce more parental combinations.
 ●​ Trans arrangement (repulsion):​
When a dominant allele of one gene and a recessive allele of
another gene are located on the same chromosome.​

○​ Example: Ab / aB.
○​ Tends to produce more recombinants.

4. Sex Linkage

●​ Definition:​
When genes are located on the sex chromosomes (X or Y), they
are called sex-linked genes.
●​ Characteristics:
○​ Show inheritance patterns related to sex.
○​ Commonly studied in X-linked genes.
●​ Examples:
○​ Color blindness, Hemophilia in humans (X-linked).
○​ Eye color in Drosophila (X-linked).

Characteristics of Linkage

1.​ Genes on the same chromosome show linkage.

2.​ Linkage strength depends on the distance between genes (closer
genes = stronger linkage).
3.​ Crossing over reduces linkage and produces recombination.
4.​ Complete linkage is rare; incomplete linkage is common.
5.​ Linked genes often show deviation from Mendelian ratios.
 6.​ Linkage maps (chromosome maps) can be prepared by calculating
recombination frequency.

Applications of Linkage Study

●​ Helps in chromosome mapping using recombination frequency.

●​ Useful in plant breeding to understand gene inheritance.
●​ Helps in identifying genetic disorders linked to sex chromosomes
in humans.

3.5 Crossing Over (Recombination)

Definition

Crossing over is the exchange of genetic material between non-sister

chromatids of homologous chromosomes during prophase I of
meiosis.​
It occurs at a point called the chiasma (plural: chiasmata) and is a
cytological basis of recombination.

This process was first proposed by T.H. Morgan (1910) and cytologically
demonstrated by Cytologists like Janssens (1909).

Types of Crossing Over

Crossing over is classified based on different criteria:

1. Based on Outcome

●​ Somatic Crossing Over:​

○​ Occurs in mitotic cells (rare).

 ○​ Leads to somatic mosaicism (patches of different phenotype
in body).
○​ Example: Drosophila eyes show mosaicism.
●​ Germinal Crossing Over:​

○​ Occurs during meiosis in germ cells.

○​ Passed on to offspring through gametes.
○​ This is the most common type.

2. Based on Number of Exchanges

●​ Single Crossing Over:​

○​ Only one chiasma forms between homologous

chromosomes.
○​ Produces parental and recombinant gametes.
●​ Double Crossing Over:​

○​ Two chiasmata form in the same chromosome pair.

○​ Produces more variety in gametes.
●​ Multiple Crossing Over:​

○​ More than two exchanges occur between homologous

chromosomes.
○​ Rare but increases variability.

Mechanism of Crossing Over

Crossing over occurs in four main stages during Pachytene and

Diplotene stages of Prophase I of meiosis:

1. Synapsis (Zygotene stage)

●​ Homologous chromosomes come close together and pair to form

bivalents.
 ●​ This pairing is stabilized by the synaptonemal complex (a protein
scaffold).

2. Formation of Chiasma (Pachytene stage)

●​ Non-sister chromatids of homologous chromosomes overlap at

specific points.
●​ DNA double-strand breaks are made by the protein Spo11.
●​ These breaks are repaired using the homologous chromosome as
a template, leading to crossover formation.

3. Terminalization (Diplotene stage)

●​ Chiasmata move towards the ends of chromosomes.

●​ This process is called terminalization.

4. Separation (Diakinesis and Metaphase I)

●​ Homologous chromosomes separate, but the exchanged

segments remain in the chromatids.
●​ This results in new combinations of alleles.
Characteristics of Crossing Over

1.​ Crossing over occurs during Prophase I of meiosis, mainly in the

pachytene stage.
2.​ It is a universal phenomenon observed in almost all sexually
reproducing organisms.
3.​ It produces genetic recombination, which is the basis of variation
in populations.
4.​ The frequency of crossing over depends on:
○​ Distance between genes (greater distance → higher crossing
over).
○​ Chromosome structure.
○​ Sex of the organism (in Drosophila, crossing over is absent
in males).
5.​ Crossing over helps in chromosome mapping using
recombination frequency.
6.​ It is precisely regulated, because excessive crossovers may
cause chromosomal abnormalities.
Advantages of Crossing Over

1.​ Produces genetic variation in gametes.

2.​ Helps in evolution and adaptability.
3.​ Useful in chromosome mapping.
4.​ Ensures proper segregation of chromosomes.
5.​ Helps in plant and animal breeding (new varieties).
6.​ Can also repair damaged DNA.

Disadvantages of Crossing Over

1.​ Sometimes causes harmful recombinations.

2.​ May lead to unequal crossing over → gene duplication/deletion.
3.​ Errors may cause nondisjunction → genetic disorders (e.g.,
Down’s syndrome).
4.​ May break favorable gene combinations.
5.​ Excessive crossing over can cause chromosome instability.

Linkage vs Crossing Over

Feature Linkage Crossing Over

Definition Tendency of genes on Exchange of

the same chromosome parts
chromosome to between homologous
remain together and chromosomes during
pass as such to the meiosis.
next generation.

Gametes Produced Produces only Produces

parental type recombinant
gametes. gametes along with
parental types.

Dependence on Linkage is stronger Crossing over

Distance when genes are frequency is higher
 closely located on when genes are far
the chromosome. apart, and lower
when close.

Effect of Age Linkage increases Crossing over

with age. decreases with age.

Variation Reduces variation Increases variation

(maintains stability of (introduces new gene
parental traits). combinations).

Types Can be complete (no Can be single,

recombinants) or double, or multiple
incomplete (some crossing over.
recombinants).

Role in Breeding Helps to maintain Helps in developing

improved varieties. new varieties.

3.6 Chromosomal Mapping

Definition

●​ Chromosomal mapping is the process of determining the linear

order of genes and the relative distance between them on a
chromosome.
●​ The distance between genes is expressed in map units (m.u.) or
centiMorgans (cM), where 1% recombination = 1 map unit = 1
cM.

Principle

●​ It is based on the frequency of crossing over.

●​ Genes that are far apart show higher recombination frequency,
while genes that are closely linked show lower recombination
frequency.

Two-Point Test Cross

Definition

●​ A test cross involving two genes to determine the recombination

frequency between them.

Procedure

1.​ A heterozygote for two linked genes (AaBb) is crossed with a

double recessive (aabb).
2.​ The offspring are scored for parental and recombinant types.
3.​ Recombination frequency is calculated using the formula:

Three-Point Test Cross

Definition
 ●​ A test cross involving three genes at a time to determine both the
sequence of genes and the distance between them.

Procedure

1.​ A heterozygote for three linked genes (AaBbCc) is crossed with a

triple recessive (aabbcc).
2.​ Eight types of gametes are produced:
○​ Parental types (2) → most frequent.
○​ Single crossovers (4) → intermediate frequency.
○​ Double crossovers (2) → least frequent.
3.​ By comparing the double crossover progeny with parental types,
the middle gene can be identified.
4.​ Distances are calculated using recombination frequencies, and a
genetic map is constructed.

Example (Simplified)

●​ Suppose genes A, B, and C are studied.

●​ Results show recombination frequency:
○​ A–B = 5%
○​ B–C = 10%
○​ A–C = 15%
●​ The order is A – B – C, and the total distance is 15 map units.

Characteristics of Chromosomal Mapping

1.​ Provides the relative position of genes (not absolute distance).

2.​ Works well when recombination frequency is less than 50%.
3.​ Multiple test crosses (2-point, 3-point) increase accuracy.
4.​ Helps in studying linkage groups and in plant/animal breeding.
3.7 Maternal Inheritance
Definition

●​ Maternal inheritance is a type of non-Mendelian inheritance where

the offspring’s traits are determined by the cytoplasm
(especially organelles like mitochondria or chloroplasts) of
the mother, rather than by nuclear genes.
●​ Since the egg contributes most of the cytoplasm to the zygote, the
maternal parent controls the phenotype.

Characteristics of Maternal Inheritance

1.​ The offspring phenotype depends on the genotype of the

mother, not its own genotype.
2.​ Traits are transmitted uniparentally (from mother), not from
father.
3.​ It is associated with cytoplasmic organelles (plastids,
mitochondria), which carry their own DNA.
4.​ It shows non-Mendelian segregation patterns.

Correns’ Experiment (1909) – Mirabilis jalapa (Four O’clock Plant)

Aim

●​ To study inheritance of leaf colour in Mirabilis jalapa.

Observation

The plant shows three types of leaves:

1.​ Green leaves – contain normal chloroplasts.

2.​ White leaves – lack chlorophyll (non-functional plastids).
3.​ Variegated leaves – mixture of green and white patches.

Crosses and Results

 1.​ Green female × Any male (green/white/variegated)​

○​ All offspring → green.

2.​ White female × Any male (green/white/variegated)​

○​ All offspring → white (non-viable later).

3.​ Variegated female × Any male​

○​ Offspring may be green, white, or variegated in different

proportions.

Conclusion

●​ The offspring’s phenotype depends entirely on the female parent.

●​ This is because the egg cell cytoplasm contributes plastids to
the zygote, while the male gamete contributes only the nucleus.
●​ Thus, inheritance of leaf colour in Mirabilis jalapa is a classic
example of maternal inheritance.

Diagram (for easy recall in exams)

Green ♀ × Any ♂ → All Green

White ♀ × Any ♂ → All White

Variegated ♀ × Any ♂ → Green + White + Variegated

Significance of Maternal Inheritance

1.​ Explains the role of cytoplasmic organelles (plastids,

mitochondria) in heredity.
2.​ Helps understand traits like cytoplasmic male sterility in plants
(used in hybrid seed production).
3.​ Useful in studying human mitochondrial diseases.