MENDELIAN DISORDER
INTRODUCTION
• Genetic Disorders
• Chromosomal
• Abnormalities
• Mendelian diseases
• Multifactorial diseases
What are Mendelian Disorders?
• The disorders whose inheritance is in accordance with the
Mendel’s' laws of inheritance.
• They occur because of mutation.
• They are single gene disorders.
• They may be 4 types:
1. Autosomal Dominant
2. Autosomal Recessive
3. X-linked Dominant
4. X-linked Recessive
5. Mitochondrial
1. Autosomal dominant
The mutant gene in an autosomal dominant disorder is a
dominant gene on one of the autosomal chromosomes.
2.Autosomal Recessive
An autosomal recessive disorder requires the presence of two copies of
a defective gene for the disease or characteristic to develop.
3.Sex-linked dominant
Sex-linked dominant is a hereditary disorder, in which a trait or disorder
can be passed down through families. the sex-linked dominant disease
is caused by one abnormal gene on the X chromosome.
4.Sex-linked recessive
In recessive inheritance, however, both matching genes must be
defective for disease to occur. If only one of the two genes in a pair is
defective, the disease is either not present or is minor. A carrier is
someone who has one defective gene but no symptoms. Carriers can
pass on defective genes to their children.
Examples of Mendelian disorders in humans
There are some common examples of Mendelian genetic disorders,
which are as follows:
1.Sickle cell anaemia
2.Muscular dystrophy
3.Cystic fibrosis
4.Thalassemia
5.Phenylketonuria
6.Colour blindness
7.Skeletal dysplasia
8.Haemophilia
Let us understand some of these disorders in more detail:
1. Sickle Cell Anaemia
• This is an autosomal recessive hereditary condition.
• A sickle cell anaemic person normally inherits the defective gene
from both carrier parents, according to the Mendelian law of
inheritance.
• Sickle Cell Disease anaemia is induced by a shift in the location of
the 6th amino acid in haemoglobin’s beta-globin chain. The amino
acid Glutamate is replaced with Valine in this case.
• A physical change in the mutant haemoglobin molecule causes the
transformation of a biconcave RBc
• Because of its deformed shape, this sicklecelled RBC has a
reduced oxygen-carrying cap.into a Sickle Cell.
•
2. Phenylketonuria
• This is a hereditary autosomal recessive disorder.
• Phenylketonuria is an example of an inherited disorder in which
the amino acid phenylalanine is not properly digested.
• The affected person lacks the enzyme that converts phenylalanine
to tyrosine in this condition. As a result, phenylalanine accumulates
in the body and is converted into several derivatives hat cause
mental retardation .
3. Thalassemia
• This is a genetic disorder in which the body does not produce
enough haemoglobin. As a result, many red blood cells are
destroyed, resulting in anaemia in patients. Fatigue, weakness,
and paleness are all symptoms of thalassemia.
• It is a recessive autosomal condition. Trait, minor, intermedia, and
major thalassemia are the four forms of thalassemia determined
on severity.
• Thalassemia causes facial bone deformations, swelling in the
abdomen, and black urine, among other signs and effects.
4. Cystic fibrosis
• Cystic Fibrosis is a disease that affects the lungs.
• Cystic Fibrosis is an example of an autosomal recessive disorder.
• The respiratory and digestive systems are both affected by cystic
fibrosis. Patients with this inherited disorder produce large
amounts of mucus, which blocks the lungs and pancreas’
passageways.
• Cystic fibrosis patients have a life expectancy of fewer than ten
years.
5. Huntington’s disease
Huntington’s disease is a well-known autosomal dominant single-gene
disease; most people with a single copy of the mutant huntingtin gene
(HTT) will develop the condition later in life. Autosomal dominant
disorders typically affect people in their early years and prevent them
from living through infancy or childhood, preventing them from
reproducing and potentially passing the mutation on to their children.
The late start of Huntington’s disease, on the other hand, implies that
many people with the disease have already had children before they
even realise, they have the gene.
A Recap of Mendel’s Laws of Inheritance
1st Law: Law of Dominance: For a group of genes, the one
which expresses itself is called the dominant while the other is called the
recessive gene. E.g.: In pea plant T and t are the genes for height of the
pea plant. T(tall) is dominant while t (short) is recessive. Thus, in a
condition such as Tt, T will ex press itself and the pea plant will be tall.
2nd Law: Law of Segregation:
The two members of a gene pair (alleles) segregate (separate) from
each other in the formation of gametes. Half the gametes carry one
allele, and the other half carry the other allele
3rd law: Law of independent assortment:
Genes for different traits assort independently of one another in
the formation of gametes.
Types Of Mendelian Disorders
Humans have 23 pairs of Chromosome out of which 21 are autosomes
and 1 pair is the sex chromosome.
1. Autosomal Dominant:
*When the affected gene is located on an autosome and the disorder
gets expressed in both homozygous and heterozygous condition, the
disorder is called autosomal dominant.
*Affected person has an affected parent and occurs in every
generation.E.g.: Cardiomyopathy, hypercholesterolemia, skeletal
dysplasia etc.
2. Autosomal Recessive:
When the affected gene is located on an autosome, but the
disorder gets expressed only in homozygous condition, the
disorder is called autosomal recessive. Both parents of an
affected person are either carriers or affected themselves.
E.g.: Sickle-celled anaemia, phenylketonuria, cystic fibrosis etc.
3.X-linked dominant:
* When the affected gene is located on the X sex chromosome and
the disorder gets expressed in both homozygous and heterozygous
condition, the disorder is called X-linked dominant.
*Females are more frequently affected but both males as well as
females can be affected in one generation.
E.g.: Hypothermic rickets (vitamin D-resistant rickets), ornithine
transcarboxylase deficiency
4.X-linked recessive
.When the affected gene is located on the X sex chromosome and the
disorder gets expressed only in homozygous condition, the disorder is
called X-linked recessive.
• Males are more frequently and affected males are present in every
generation. E.g.: Haemophilia, colour blindness, muscular
dystrophy etc.
5.Mitochondrial Disorder:
When the affected gene is coming from the mitochondrial DNA it is
called mitochondrial disorder
It is transferred from one generation to the other only by females
but can affect both males and females.
It can appear in every generation.
E.g.: Lieber’s hereditary optic neuropathy, Kearns-Sayre
syndrome.
*Mendelian disorders are passed down through families in a manner
that reflects the inheritance of a single causative gene.
BIBLIOGRAPHY
• Chat gpt
• Google
• Microsoft edge
• And images from google images
• Google gemini
INDEX
Serial.n TOPIC
o
1 What are Mendelian Diorders
2 Sickel Cell Anaemia
3 Phenylketonuria
4 Thalassemia
5 Cystic fibrosis
6 Huntington’s Disease
7 1st Law of Dominance
8 2nd Law Of Segregation
9 3rd Law of Independent Assortment
10 Autosomal Dominant
11 Autosomal Recessive
12 X-Linked Dominant
13 X-Linked Recessive
14 Mitochondrial Disorder
INTRODUCTION
Genes are buildings block of heredity. They are passed from
parents to child. They hold DNA, the introduction for making
proteins. Proteins do most of the work in cells. They move
molecules from one place to another, build structure, break
down toxins, and do many other maintenance jobs.
Sometimes there is a mutation, a change in a gene or genes.
The mutation changes the gene’s introductions for making a
protein, so the protein does not work properly. This can
cause a medical condition called a genetic disorder There
are two types of genetic disorders:-
• Mendelian disorder, where a mutation affect one gene.
Sickle cell anaemia is an example.
• Chromosomal disorders, where chromosomes (or parts of
chromosome) are missing or changed. Chromosomes are the
structures that hold our genes. Down syndrome is a
chromosomal disorder
