Pattern of inheritance

Mendel's laws

By
Ayoob Radhi Tuama
Ph.D. Molecular Genetics & Bioinformatics
Mendelian Genetics and Mendel's Laws

• In 1866, Gregor Mendel, an Austrian monk and

a plant breeder, published his findings on the
method of inheritance in garden pea plants.
The passing of traits to the next generation is
called inheritance, or heredity.

• Pea plants are true-breeding, meaning that

they consistently produce offspring with only
one form of a trait.
Why the Pea Plant?

• Many varieties

• Hybrids for previous studies

• Easy to grow

• Short generation time

• Self-fertilization

• Cross-fertilization
Why the Pea Plant?
Seven True Breeding Traits

Seed shape Pod color

Seed color
Plant height
Flower color
Flower
Pod shape location
Monohybrid Crosses

Monohybrid Crosses: It is the study of the inheritance of a single trait

between two generations by crossing two plants that differ in just one trait.
 Monohybrid Crosses
Parental Generation (P Generation) - Step 1

• Goal: To study the effect of crossbreeding plants

with different flower colors.

• What Mendel did: Mendel started with true-

breeding pea plants, one with only purple flowers
and the other with only white flowers.

• Result of this step: He had two plants, one with

purple flowers and the other with white flowers,
which he referred to as the "parental
generation."
 Monohybrid Crosses
Cross-Pollination - Step 2

• Goal: To combine different traits and

study how they pass to the next
generation.
• What Mendel did: He transferred
pollen (male gametes) from a purple-
flowered plant to the female part
(pistil) of a white-flowered plant.
• Result of this step: Seeds from these
cross-pollinated plants were produced,
which would grow into the next
generation.
 Monohybrid Crosses
First Generation (F₁ Generation) - Step 3

• Goal: To observe the traits expressed in the

resulting generation. P1
• What Mendel observed: When the plants
from the cross-pollinated seeds grew, all of
them had purple flowers. The white flower Cross fertilization
trait disappeared in this generation.
• Explanation: The allele that produces purple
flowers is dominant, while the allele that
produces white flowers is recessive. When the F1
dominant allele is present, its effect masks
that of the recessive allele.
• Result of this step: All the plants in the F₁
generation had purple flowers. 100% purple flowers.
 Monohybrid Crosses
Self-Pollination of the F₁ Generation - Step 4
P1

• Goal: To see if the recessive trait

(white) would reappear.
• What Mendel did: He allowed the
plants of the F₁ generation (which
F1
had purple flowers) to self-
pollinate.
• Result of this step: Seeds were
produced from this self-pollination,
which would grow into the second
generation.
 Monohybrid Crosses
Second Generation (F₂ Generation) - Step 5

• Goal: To study the ratio of dominant to P1

recessive traits in the second generation.
• What Mendel observed: When the
plants from the self-pollinated seeds
grew, he found that about 3:1 of the
F1
plants had purple flowers to white
flowers:
• 75% of the plants had purple
flowers.
• 25% of the plants had white flowers. F2

3 : 1 ratio
Monohybrid Crosses
Second Generation (F₂ Generation)

F2 phenotypic ratio

• 3 purple
PP Pp
• 1 white

F2 genotypic ratio

• 1 homozygous purple

• 2 heterozygous purple
pP pp
• 1homozygous white
F2
Monohybrid Crosses
Examination of One Trait Through Two and Three Generations

true-breeding non-true-breeding non-true-breeding true-breeding

purple purple purple white

F2
3:1
phenotypic
ratio
Self-cross Self-cross Self-cross Self-cross

F3
1: 2 : 1
genotypic
ratio
Monohybrid Crosses
The Punnett Square

There are 2 possible gametes from each There are 2 possible gametes from each
parent. This leads to a 1:2:1 genotypic ratio. parent. This leads to a 3:1 phenotypic ratio.
 Mendel’s Insights Summarized

Traits transmitted by factors

1. Parents do not directly transmit physiological traits to their offspring. Instead, they pass on specific information
about these traits, which Mendel termed "factors." Today, these factors are called genes.
 Mendel’s Insights Summarized

Individuals are diploid. Gametes are haploid.

2. Each individual receives two copies or alleles encoding a single trait. We now know that these two factors are
carried on chromosomes, and every mature adult is diploid (has two sets of chromosomes). The gametes
produced through meiosis are haploid (have one set of chromosomes).
Mendel’s Insights Summarized

Alleles: alternative forms

3. Mendel indicated the presence of multiple alleles for a particular trait. There might be more than
two alleles, but in the traits Mendel studied, he only had two different alleles. This made
understanding much simpler for him compared to scenarios involving multiple alleles.
 Mendel’s Insights Summarized

A A A a
B B b B
C C c C
D D D d
E E e E

Homozygous Heterozygous
4. Not all gene copies are identical. Alternative forms of a gene are called alleles, and their singular form is
allele. When two haploid gametes carrying the same allele fuse during fertilization, the resulting offspring is
called homozygous for the genes. Conversely, if the two haploid gametes carry different alleles, the resulting
offspring is called heterozygous for the genes.
 Mendel’s Insights Summarized

A vs. a

Dominant vs. recessive alleles

5. The presence of a specific allele doesn't necessarily mean it will express the trait it encodes. In individuals with
heterogeneous genes, only one allele (dominant) is expressed, while the other allele (recessive) is present but not
expressed.
Mendel’s Insights Summarized

Alleles remain discrete.

6. Alleles remain separate and do not mix together. When an individual matures and becomes capable of
producing gametes, the alleles segregate randomly into these gametes.
The Principle of Segregation
The Monohybrid Cross Experiments Led Mendel to the Principle of Segregation

F1 generation F2 generation

Principle of Segregation: Alternative alleles for a character segregate

from each other during gamete formation and remain distinct.
Dihybrid Crosses

Dihybrid Crosses: It is the study of the inheritance of two different traits

simultaneously across two generations, to see if the genes for different traits
are inherited independently of each other.
Dihybrid Crosses
P Generation

RR YY rr yy

P
2 types of gametes are possible
from the P generation.

Examining two traits at a time leads

Mendel to an additional conclusion.
 Dihybrid Crosses
F1 Generation

Chromosomes (alleles) assort

independently into gametes.

4 types of gametes are possible

from the F1 generation.
 Dihybrid Crosses
Phenotypic Ratios
RY Ry rY ry

Every gamete must recevive one of RY

each chromosome during RR YY RR Yy Rr YY Rr Yy

meiosis, right? Ry
RR Yy RR yy Rr Yy Rr yy

Examining two traits at a time

rY
leads Mendel to an additional Rr YY Rr Yy rr YY rr Yy
conclusion.
ry
Rr Yy Rr yy rr Yy rr yy

F2 phenotypic ratio:
9 :3 :3 :1
= 9/16 = 3/16 = 3/16 = 1/16
The Principle of Independent Assortment
Chromosome Alignment

Principle of Independent Assortment:

Alleles on different chromosomes assort independently of one another.
During meiosis I, chromosome alignment on the metaphase plate is random.
Dominant/Recessive Patterns
Generation I

Generation I

Female

Dominant/recessive patterns of inheritance occur in

Male
humans too. But geneticists have to study family
histories to get pedigrees.

Dominant traits generally show up in every generation.

Dominant/Recessive Patterns
Generation I to III

Generation I

Female

Generation II

Male

Generation III

Dominant traits generally show up in every generation.

Dominant/Recessive Patterns
Generation I to III

Generation I

Female

Generation II

Male

Generation III

Affected Unaffected
Dominant/Recessive Patterns
Generation I to IV

One of these is
Generation I heterozygous.
Female

Generation II

Male
Generation III

Mating
Generation IV between
first cousins

Recessive traits often skip generations.

Dominant/Recessive Patterns
Generation I to IV

One of these is
Generation I heterozygous.
Female

Generation II

Male
Generation III

Mating
Generation IV between
first cousins

Recessive traits often skip generations.

Dominant/Recessive Patterns
Generation I to IV

Generation I
Female

Generation II

Male
Generation III

Mating
Generation IV between
first cousins

Unaffected Affected Carrier