VELAMMAL VIDYALAYA

MOGAPPAIR WEST, CHENNAI – 37.

BIOLOGY PROJECT
ACADEMIC YEAR: 2025 – 2026

Genetic Disorder

PREPARED BY
NAME :
CLASS :
SUBJECT CODE :
 ACKNOWLEDGEMENT

In the accomplishment of this project successfully, many

people have bestowed their blessings and heart pledged
support up on me, I take this opportunity to express my
gratitude to all, who have been instrumental in the successful
completion of this project.

Primarily, I express my deep sense of gratitude to the luminary,

The Principal, The Vice Principal for providing the best of

facilities and environment to bring out innovation and spirit of
inquiry through this venture.

I am deeply indebted to my teacher ____________________,

without whose constructive feedback, this project would not
have been successful. The valuable advice and suggestions for
correction, modifications and improvement did enhance the
quality of the task.

I would also like to thank my parents, friends and all the

members who contributed to this project was vital for the
success of the project.

I am grateful for their constant support and help.

 VELAMMAL VIDYALAYA
MOGAPPAIR WEST, CHENNAI – 37.

NAME : BATCH NO :

CLASS : REGD.NO. :

CERTIFICATE

Certified that this is a bonafide Record of Practical work done by

Mr. / Miss. _____________________________________________ in the

__________________________ Laboratory during the year 2025 – 26.

Teacher-In-Charge

Submitted for the Practical Examination in

________________________at ______________________________ held

o n _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _ _

PRINCIPAL INTERNAL EXAMINERS EXTERNAL EXAMINERS

 INDEX
INTRODUCTION 4
HISTORY 5
MENDELIAN DISORDER 7
AUTOSOMAL DISORDER 9
HUNTINGTON DISORDER 10
AUTOSOMAL RECESSIVE 11
SICKLE CELL ANEMIA 12
X- LINKED DOMINANT DISORDER 13
X- LINKED RCESSIVE DISORDER 14
COLOUR BLINDNESS 16
DIAGNOSIS 18
TREATMENT 19
CONCLUSION 20
BIBLIOGRAPHY 21
 Introduc�on
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 gene’s.
The mutation changes the gene’s introductions for
making a protein, so the protein does not work properly
or in missing entirely. This can cause a medical condition
called a genetic disorder
There are three types of genetic disorders:-
• Single-gene disorders, where a mutation affect one
gene. Sickle cell anemia 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
• Complex disorders, where there are mutation in two
or more genes. Often your lifestyle and environment
 also play a role. Colon cancer is an example. Genetics
test on blood and other tissue can identify genetic
disorders
HISTORY
First there was Gregory Mendel, a monk who studied
inherited characteristics.
This was followed by Francis crick and James Watson
who unraveled the DNA molecules. This has led us to
understanding the human genome sequence.

Gregor Mendel 1866 published the result of his

investigation of inheritance of “factors” in pea plants.

Rosalind Franklin 1950’s. Maurice Wilkins (1916-) ,

Rosalind Franklin (1920-1957), Francis H. C. Crick (1916-)
, of Britain and James D.

Watson (1928-) of the U.S. Discover chemical structure of

DNA , starting a new branch of science – molecular
biology.
Watson and Crick made a model of the DNA molecules
and proved that genes determine heredity.

The history of genetic disorders spans from ancient

observations to modern molecular understanding. Early
interest in heredity and genetic conditions is evident in
ancient Greek and Indian writings.
The rediscovery of Mendel's laws in the early 20th
century marked a pivotal moment, connecting human
diseases to inheritance patterns.
Later, the discovery of DNA's structure and the Human
Genome Project revolutionized the field, allowing for the
identification of genes and their roles in various diseases.

When the genetic disorder is inherited from one or both

parents, it is also classified as a hereditary disease. Some
disorders are caused by a mutation on the X
chromosome and have X-linked inheritance.
 About - MENDELIAN DISORDE
Mendelian or monogenic diseases are caused by mutation
in one gene They run in families sometimes. Mendelian
disorders are a result of a mutation at a single genetic
locus. This locus could be present on an auto some or a
sex chromosome. It can manifest itself in either dominant
or recessive – mode. A monogenic disorder is the result of
a single mutated gene. Over 600 human diseases are
caused by single gene defect. The division between
recessive and dominant types are not “hand and fast”,
although the division between autosomal and sex-linked
types are distinguished purely based on the chromosomal
location of the year.
For e.g.-
achondroplasias is typically considered a dominant
disorders, but children with two genes for
achondroplasia could be viewed as carrier. Sickel-cel
anemia is also considered a recessive condition, but
heterogynous carrier has increased resistance to malaria
in early childhood, which could be described as a related
dominant condition.
 • When a couple where are partners or both are
sufferers or carrier of a single gene disorders wish to
have a child, they can do so through ‘In vitro
fertilization (IVF)’, which means they can have a
pasimplatation genetic diagnosis to check whether the
embryo has the genetic disorders. Most congenital
metabolic disorders known as inborn errors of
metabolism result from single gene defect
There are some common examples of Mendelian genetic
disorders, which are as follows:
• Sickle cell anaemia
• Muscular dystrophy
• Cystic fibrosis
• Thalassemia
• Phenylketonuria
• Colour blindness
• Skeletal dysplasia
• Haemophilia

Types of Mendelian Disorders

The following are types of Mendelian disorders, as
defined by Mendel’s laws of inheritance:
 1. Autosomal dominant
2.Autosomal recessive
3.Sex-linked dominant
4.Sex-linked recessive

AUTOSOMAL DOMINAT

Only one mutated copy of the gene will be necessary for a

person to be affected by an autosomal dominant
disorders each affected person has one affected parents.
The chance a child will inherit the mutated gene is
50%. Autosomal dominant condition sometimes have
reduced penetrance, which means although only one
mutated copy is needed, not all individuals who inherit
that individuals who inherit that mutation go on to
develop the disease.
The mutant gene in an autosomal dominant disorder is a
dominant gene on one of the autosomal chromosomes.
Examples of this type of disorder are Huntington’s
diseases, neurofibromatosis type I and II, Tuberous
and will brain diseases.
 • 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.

The disease appears after the age

of 25 years. This is gradual loss of motor control due to
deterioration of muscles and brain. The brain shrikes to
20-30% of the original size. The symptoms begin with
uncontrolled shaking and jerky movements, followed by
slurring of speech, Loss of memories and hallucination.
The frequency of this disease is one in fifth teen thousand
of living persons. The genotype of such patients has 42-
100 repeats of CAG nucleotides instead of the normal 10-
30 repeats in chromosome 4. There is no cure for this
disorder. Full time care is required in the later stage of
the disease.
. AUTOSOMAL RECESSIVE
Autosomal recessive is one of several ways that a trait,
Disease or disorder can be passed down through families.
An autosomal recessive disorder means two copies of an
abnormal gene must be present in order for the disease or
trait to develop .An affective person usually have an
unaffected parents who each carry a single copy of the
mutated gene (and are referred to as carrier) . Two
unaffected people who each carry one copy of the
mutated gene have a 25% risk with each pregnancy of
having a child affected by the disorder.
Example of this type of disease is: - Sickle cell anemia
SICKLE CELL ANEMIA
It is an autosomal blood disorder caused by co-dominant
alleles. The mutant allele of the hemoglobin gene on
chromosome 11 results in abnormal hemoglobin, which
has reduced oxygen-carrying capacity. At low oxygen
levels, RBCs with hemoglobin S become narrow, sickle-
shaped, and clump together, causing vascular
obstruction and severe anemia. This can damage vital
organs like the liver and brain, leading to early death.
Symptoms: -
Pain in joint and cheats area
Whole body gets dizziness, fatigue low oxygen level in the
body
Abnormal breakdown of red blood cells, inflamed fingers
or toes, Pallor
Shortness of breath and yellow skin and eyes
 X- Linked dominant disorder
X-linked dominant inheritance is a mode of genetic
disorder by which a dominant gene is carried on the X
chromosome. As an inheritance pattern, it is less common
than the X-linked recessive type .In medicine, X- linked
dominant inheritance indicates that a gene responsible
for a genetic disorder is located on the X chromosome,
and only one copy of the allele is sufficient to cause,
someone who expressed an X-linked dominant allele will
exhibit the disorder and be consider affected
example- Goltz syndrome

Goltz syndrome is a rare genetic condition characterized

by involvement of the skin, skeletal system, eyes and
face. Skin manifestation present at birth include the skin
and areas of missing skin; fat nodules in skin
manifestation as soft, yellow-pink nodules, and
pigmentary
X- Linked recessive disorder
X- Linked inheritance means that the gene causing the
trait orthe disorder is located on the X chromosome.
Female have two X chromosome; male have one X and
one Y. Genes on the X Chromosomes can be recessive or
dominant. Their expression in females and males is not
the same. Gene on the Y chromosome does not exactly pair
up with the genes on the X chromosome.
X- Linked recessive gene is expressed in female only if
there are two copies of the gene (one on each X
chromosome.
However, for males, there needs to be only one copy of an
X-linked recessive gene on order for trait or disorder to be
expressed.

The most common X-linked recessive disorders are:

 • Red–green color blindness, also known as daltonism,
which affects roughly 7% to 10% of men and 0.49% to
1% of women. ...
• Hemophilia A, a blood clotting disorder caused by a
mutation of the Factor VIII gene and leading to a
deficiency of Factor VIII

For example, women can carry a recessive gene on one of X

chromosome unknowingly, and pass it on to a son, who will
express the trait:
 Color blindness
Colour blindness is a X-linked recessive disorder. Some
persons are unable to distinguish certain colours. They
are called colour blind person. Serial types of colour
blindness are known but the red-green colour blindness
also called Daltons is the most common. This gene is
located on X-chromosome. Hence it is a X-linked recessive
disorder. It is expressed in about 8% males, but rarely
reported in females. It will decrease the ability to see
colour or differences in colour. It can impair task such as
selecting ripe fruit, choosing clothes and reading traffic
light.
Case 1 :- When a normal women marries to a colour blind
man, their offspring’s (Daughters and sons) will have
normal colour vision. But when these daughters are
married to normal men 50% of their sons will be
colorblind and the remaining 50% will be normal, while
daughters will all be normal
Case 2 :- When a colour blind women is married to a
normal men, their daughters will be normal but all the
sons will be colorblind . When these F1 daughters are
married to colorblind men, colorblind sons and
daughters will be produced in equal numbers
 Diagnosis
Due to the wide range of genetic disorder that is known,
diagnosis is widely varied and dependent of the disorder. Most
genetic disorder are diagnosed at birth or during early childhood
however some, such on Huntington diseases, can escape
detection until the patient is well into adulthood.
The basic aspects of a genetic disorder rest on the inheritance of
genetic material. With an in-depth family history, it is possible
to anticipate possible disorder in children which direct medical
professionals is to specific test depending upon the disorder and
allow parents the chance to prepare for potential life style
changes, anticipate the possibility of stillbirth, or contemplate
termination parental diagnosis can detect the presence of
characterized substance via invasive procedures which involve
inserting probes or needles into the uterus such as in
amniocentesis.
 Treatment
The treatment of genetic disorder is ongoing battle with
over 1800 gene therapy clinical trials having been
completed, are going, or have been approved worldwide.
Despite this, most treatment options revolve around
treating the symptoms of the disorder in an attempt to
improve patient quality of life.

Gene therapy refers to a form of treatment where a

healthy gene is introduced to a patient. This should
alleviate the defects caused by a faulty gene or slow the
progression of disease a magnon obstacle has been the
delivery of genes to the appropriate cell tissue and organ
affected by the disorder.
 Conclusion

This project on “GENETIC DISORDER” is a very

interesting project. This topic gives us a lot of
information about various types of genetic disorder.
We have learned that theme is lot of genetic disorder
that can affect the human’s population. Not all
genetic disorder directly results in death; however
there are no known cures for genetic disorder. Many
genetic disorder affect stages of development such
as Down syndrome, while others results in purely
physical symptoms such as muscular dystrophy.
Others disorders such as Huntington disease, shows
no sign until adulthood
 Bibliography
To complete this presentation, I have taken help from
our school biology book and I have collected
information from some Google sites.
I have also taken the help of the notes given by my
biology teacher.
The image attached in this project is collected from
internet.

LIST OF GOOGLE SITES ARE :-

• https://en.m.wikipedia.org
• https://www.genome.gov.com
• https://www.medicinenet.com
• https://rarediseases.info.nih.gov.com

thank you