The Biology Project:

Mendelian Genetics
By Prachi
11
CONTENTS:
INTRODUCTION
MENDEL`S EXPERIMENTS
MENDEL`S LAW OF INHERITANCE
LAW OF SEGREGATION
LAW OF INDEPEDENT ASSORTMENT
LAW OF DOMINANCE
INTRODUCTION

• Mendelian Genetics is a kind of biological inheritance

that highlights the laws proposed by Gregor Mendel in
1866 and rediscovered in 1900. These laws faced a few
controversies initially but when Mendel’s theories got
integrated with the chromosome theory of inheritance,
they soon became the heart of classical genetics. Later,
Ronald Fisher combined these ideas with the theory of
natural selection and forms a base for population
genetics and modern evolutionary synthesis.
Mendel’s Experiments
• Gregor Mendel performed breeding experiments in his garden
to analyzing patterns of inheritance. He opted cross-bred
normal pea plants with selective traits over various
generations. When two plants were crossed that differed in a
single trait (round peas vs. wrinkled seeds, short stems vs. tall
stems, white flowers vs. purple flowers, etc), Mendel found
that the next generation, F1 comprised of whole individuals
that exhibit only one trait. However, after the generation was
interbred, its offspring which is the F2 generation showed 3:1
ratio wherein three individuals had similar traits of a parent.
• Mendel theorized that genes could be formed up
by three possible combinations of heredity units
that are said to be factors: AA, aa, Aa. The big A
shows dominant factor and small a shows
recessive factor. The beginning plants were
homozygous AA or aa, F1 generation was Aa and
F2 generation was AA, aa or Aa. The interaction
among these two finds the physical trait that is
visible.
• According to Mendel’s law of Dominance, when
visit occurs among two organisms of separate
traits, every offspring shows the trait of only one
percent. When the dormant factor exists in an
individual, it results into a dormant trait. The
recessive trait results only if both the factors are
recessive.
Mendel’s Laws of Inheritance
Mendel’s conclusions could be described in the
following principles:
•Law of Segregation
•Law of Independent Assortment
•Law of Dominance
Law of Segregation

•According to the law of segregation,

every parent’s pair of genes or alleles
divide and a single gene passes from
every parent to an offspring. Which
particular gene passes on in a pair is
entirely up to chance
Law of Independent Assortment

•According to the law of Independent

Assortment, discrete pairs of alleles
passes onto the offspring without
depending on one another. Hence,
inheritance of genes at a particular region
in a genome does not affect the
inheritance of genes in a different region.
Law of Dominance
• According to the law of dominance, recessive alleles are always
masked by dominant alleles. Hence, a cross among a
homozygous recessive and a homozygous dominant shows the
dominant phenotype by still having a heterozygous genotype. This
law could be explained by monohybrid cross experiment. In case
of a cross among the two organisms of contrasting traits, the
character that is visible in the F1 generation is known as dominant
and the one that is suppressed is known as recessive. Every
character is handled by a pair of dissimilar factors and only one
among the characters shows the results. Please note that the law
of dominance is true but not applicable on a global perspective.
•According to the latest studies
and records, one of the first two
principles is considered to be
the law while the law of
dominance is a basic principle
and not Mendelian genetics.
Mendel’s Experiments

• Mendel experimented on a pea plant and

considered 7 main contrasting traits in the
plants. Then, he conducted both the
experiments to determine the
aforementioned inheritance laws. A brief
explanation of the two experiments is given
below...
 Monohybrid Cross
• In this experiment, Mendel took two pea plants of opposite traits
(one short and one tall) and crossed them. He found the first
generation offsprings were tall and called it F1 progeny. Then
he crossed F1 progeny and obtained both tall and short plants
in the ratio 3:1. To know more about this experiment, visit
Monohybrid Cross – Inheritance Of One Gene.
Mendel even conducted this experiment with other contrasting
traits like green peas vs yellow peas, round vs wrinkled, etc. In
all the cases, he found that results were similar. From this, he
formulated the laws of Segregation And Dominance.
 Dihybrid Cross
• In a dihybrid cross experiment, Mendel considered two
traits, each having two alleles. He crossed wrinkled-green
seed and round-yellow seeds and observed that all the
first generation progeny (F1 progeny) were round-yellow.
This meant that dominant traits were round shape and
yellow color. He then self-pollinated the F1 progeny and
obtained 4 different traits wrinkled-yellow, round-yellow,
wrinkled-green seeds and round-green in the ratio 9:3:3:1.
Check Dihybrid Cross and Inheritance of Two Genes to
know more about this cross.
•After conducting for other traits, the
results were found to be similar.
From this experiment, Mendel
formulated his second law of
inheritance i.e law of Independent
Assortment. Check the links given
below to learn some of the important
terms related to inheritance.
Mendel's Law of Inheritance -
Experiments
• Genetics deals with the inheritance and variations of traits
from parents to offspring. The mystery behind genetics was
unlocked during mid-nineteenth century by a monk called
Gregor Mendel in the mid-nineteenth century. He
conducted experiments to understand the basis for
inheritance i.e., why dogs give birth only to dogs but not to
humans. Nowadays, Mendel’s experimental observations
and discoveries serve as the fundamental for the
inheritance which is famously called as Mendel’s law of
inheritance
Mendel’s Law of Inheritance
• The acquiring of genetic traits or characteristics by their
offspring is known as Inheritance. Both the parents
contribute equally to the inheritance of traits in humans.
Gregor Mendel studied the law of inheritance in 1860 and
conducted an experiment on pea plants. He started
cultivating pea plants and observed that their inheritance
pattern from one generation to another. The observation
leads to the discovery of three laws of inheritance which are
known as Mendel’s Law of Inheritance.
Mendel began his investigation with a pair of pea plants with two
contrasting traits i.e., one tall and another dwarf. He observed
their pattern of inheritance. Similarly, he investigated pairs of pea
plants with one contrasting trait. Mendel studied these seven
characters that consist of contrasting traits:
 Stem height: Tall/dwarf
 Seed shape: Round/wrinkled
 Seed color: Yellow/green
 Pod color: yellow/Green
 Flower position: terminal/Axial
 Flower color: Violet/white
 Pod shape: constricted/Inflated
Throughout his experiment, Mendel employed only
true-breeding pea plants. This is because a true
breeding plant has stable trait inheritance for several
generations. In each experiment, he observed a
pattern of inheritance which set a framework for the
law of inheritance. He combined mathematics with
this biological issue to make it more credible. Later,
based on the observations and conclusions made by
Mendel, the relation between inheritance, traits, and
factors that are responsible for heredity was
discovered.
Incomplete Dominance & Mendel's
Experiment
• Going back to ancient times, Gregor Mendel and
his experiment on pea plants. Based on the
Mendel’s work on pea plants, he proposed three
laws, commonly known as Mendel’s laws of
inheritance. However, the Mendelian experiments
were not universal for every plant. Some plants
showed variations in their phenotype
Concept of Dominance
• In genetics, Dominance is a relationship between alleles of one
gene.In order to understand the concept of the dominance of
alleles, we need to know more about genes. So far we know
that genes are a hereditary unit in organisms which exist as a
pair of alleles in diploid organisms. These pair of alleles may or
may not be similar. That is, a heterozygous gene has two
dissimilar pairs of alleles while homozygous have identical ones.
Thus, heterozygous alleles carry different information on traits.
When we say one trait is dominant over the other, there can be
two reasons: either it is non-functional or is less active than the
normal allele.
Incomplete dominance
 Incomplete dominance is a form of Gene interaction, in which, a heterozygous
condition, both alleles of a gene at a locus are partially expressed, often resulting
in an intermediate or different phenotype. It is also called partial dominance.
 Gregor Mendel conducted experiments on pea plants. He studied on seven
characters with contrasting traits and all of them showed a similar pattern of
inheritance. Based on this, he generalized the law of inheritance.
 Later, researchers repeated Mendel’s experiment on other plants. Shockingly,
they noted that F1 Generation showed variation from the usual pattern of
inheritance. The monohybrid cross resulted in F1 Progeny which didn’t show any
resemblance to either of the parents, but an intermediate progeny.
 Let’s understand the incomplete dominance with the example of Snapdragon
flower (Antirrhinum sp).
 Monohybrid cross was done between the red and white colored
flowers of Snapdragon plant. Consider, pure breed of the red
flower has RR pair of alleles and that for the white flower is rr.
 Firstly, true breeding red (RR) and white (rr) colored flowers of
snapdragon were crossed. The F1 generation produced a pink
colored flower with Rr pair of alleles. Then the F1 progeny was
self-pollinated. This resulted in red (RR), pink (Rr) and white (rr)
flowers in the ratio of 1:2:1.Recollect that the genotype ratio of
F2 generation in the monohybrid cross by Mendel also gave the
same ratio of 1:2:1. However, the phenotype ratio has changed
from 3:1 to 1:2:1. The reason for this variation is the incomplete
dominance of the allele R over the allele r. This led to the
blending of color in flowers.
Codominance
• Codominance is closely related to incomplete dominance.
In codominance, both alleles can be seen in the
phenotype at the same time. Instead of being uniformly
pink, a flower with red and white alleles that show
codominance will have patches of red and patches of
white. As with incomplete dominance, the F2 generation
from heterozygous plants will have a ratio of 1:2:1 of red,
spotted, and white flowers. Codominance is also shown in
humans with AB blood type; the alleles for blood types A
and B are both expressed.
Mendelian Disorders in Humans
• The Mendelian disorder is different types of genetic
disorder in humans. These genetic disorders are
mainly caused by the changes or alterations in a
single gene or due to the abnormalities in the
genome. These conditions will be present since the
child’s birth and can be predicted based on the
history of a family with the help of a family tree. This
process of analysis is called the pedigree analysis.
These genetic disorders are quite rare and may
affect one person in every thousands or million.
Genetic disorders may be heritable or may not be
heritable. Inheritable genetic disorders, it usually
occurs in the germ line and in non-heritable genetic
disorders, the defects are generally caused by new
mutations or due to some changes in the DNA.
For instance: The same disease cancer, may either
be caused by an inherited genetic condition, or by a
new mutation in some people and even by the
environmental causes in some.
Types of Mendelian Genetic disorders
• According to the Mendel’s’ laws of inheritance, the different types of genetic disorders
include:
1. Autosomal dominant.
2. Autosomal recessive.
3. Sex-linked dominant.
4. Sex-linked recessive.
5. Mitochondrial.
 The different types of Mendelian disorders can be easily determined from the pedigree
analysis.
 Few examples of the Mendelian disorder in humans are Sickle cell anemia, color
blindness, muscular dystrophy, Thalassemia, cystic fibrosis, skeletal dysplasia,
hemophilia, and phenylketonuria are the most common Mendelian disorders.
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