BIOLOGY INVESTIGATORY PROJECT

GENETIC DISORDER
2021-22

PROJECT BY: ANMOLDHUNGEL

CLASS: 12

ROLL NO: 29

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 ACKNOWLEDGEMENT

I hereby express my sincere gratitude to Mrs. R.N Ram,

PGT (Biology) .I am very grateful to my school biology
teacher and also to my tution mentor who has been constant
source of inspiration and guidance .
They support me with all the ideas and helped me to the
maximum extend possibilities. They gave me enough extra
time to find all the required information to turn my ideas
into a single project. This biology project on “GENETIC
DISORDERS” would never been existed without their
guidance, teaching and support.
I would also like to thank my parents, brother and friends
who helped me a lot in finalizing this project within the
limited time frame.

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 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

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 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.

Types of Genetic Disorders

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 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

AUTOSOMAL DOMINANT

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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.

Examples of this type of disorder are Huntington’s diseases,

neurofibromatosis type I and II, Tuberous and will bran diseases.

HUNTINGTON, s DISEASE
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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.

AUTOSOMAL RECESSIVE

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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

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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

X- Linked dominant disorder

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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

G
oltz 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
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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:

Colour blindness
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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
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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

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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.

Conclusion
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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
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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

THANKYOU

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