BHARATH VIDYA MANDIR SENIOR SECONDARY

SCHOOL (CBSE), ILANJI

2024-2025

BIOLOGY

INVESTIGATORY PROJECT

GENETIC DISORDER

Submitted by

B.SUNDAR RAJAN

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XII-A
 CERTIFICATE

This is to certify that (B.SUNDAR RAJAN) of class XII-LLAMA has

prepared the investigatory biology project entitled “GENETIC DISORDER”
during the year 2024-2025 in partial fulfillment of biology practical
examination conducted by the school.

Date:

Signature of Internal Examiner :

Signature of External Examiner :

Signature of the Principal :

Signature of the Senior Principal:

INDEX
Introduction 4

History 5

Mendelian disorder 6

Autosomal disorder 7

Huntington disorder 8

Autosomal recessive 9

Sickle cell Anemia 10

X- linked dominant disorder 11

X- linked recessive disorder 12

Color blindness 13

Diagnosis 14

Treatment 15

Conclusion 16

Bibliography 17
 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 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.

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 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 the

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.

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Types of Genetic Disorders

1) MENDELIAN DISORDERS

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.- , achandroplasia 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 heterogygousc 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

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 2) AUTOSOMAL DISORDER
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.

Autosomal dominant
A single abnormal gene from either parent is enough to cause the disorder.
A child of a person with an autosomal dominant disorder has a 50% chance
of inheriting it. Examples include Huntington's disease and Marfan syndrome.
Autosomal recessive
Both copies of the mutated gene,
one from each parent, are required to cause the disorder.
Parents of someone
with an autosomal recessive disorder usually don't show
symptoms. Examples
include cystic fibrosis, sickle cell disease, Tay-Sachs disease, and
phenylketonuria.

Examples of this type of disorder are

Huntington’s diseases,
neurofibromatosis
type I and II, Tuberous and will bran
diseases.

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 3) HUNTINGTON'S DISEASE
It is an autosomal dominant disorder. 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.

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 4) 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

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 5) SICKLE CELL ANEMIA

It is an autosomal blood disorder caused by co-dominant

alleles. The autosomal mutant allele of normal hemoglobin
gene is located on 11 th chromosome and produces abnormal
hemoglobin. It differs from the normal hemoglobin an in
oxygen caring capacity. Under low oxygen concentration, RBCs
with hemoglobin S become narrow and sickle shaped and
clump together causing vascular obstruction and serve
anemia .The vital organ like liver and brain gets damaged and
lead 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

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 6) 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
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
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 7) X- Linked recessive disorder
X- Linked inheritance means that the gene causing the trait or
the disorder is located on the X chromosome. Female have two
X chromosome; male have one X and one Y. Genes on the X
chromosome 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.
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:

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 8) Colour 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.

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 9) 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.

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 10) 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 magion obstacle has been the
delivery of genes to the appropriate cell tissue and
organ affected by the disorder.

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 11) 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

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 12) 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

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