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Genetic Disorders Biology Project

This document is a biology investigatory project on genetic disorders submitted by Kartikey Keshari for the academic year 2024-25. It covers various aspects of genetic disorders, including their types, history, diagnosis, and treatment options. The project acknowledges the guidance of the biology teacher and provides a bibliography of sources used for research.

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riship8827
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21 views21 pages

Genetic Disorders Biology Project

This document is a biology investigatory project on genetic disorders submitted by Kartikey Keshari for the academic year 2024-25. It covers various aspects of genetic disorders, including their types, history, diagnosis, and treatment options. The project acknowledges the guidance of the biology teacher and provides a bibliography of sources used for research.

Uploaded by

riship8827
Copyright
© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

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Biology investigatory Project

Biology SL (National Institute of Open Schooling)

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Studocu is not sponsored or endorsed by any college or university


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CHRIST JYOTI HIGHER SECONDARY SCHOOL


BIOLOGY PROJECT

GENETIC DISORDER
2024-25

SUBMITTED TO:- PROJECT BY: Kartikey Keshari

Mrs. Pranita Sinha Mam CLASS: XII ROSE

ROLL NO: 09
SUBMITTION DATE:
BOARD ROLL NO.

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Acknowledgement

I hereby express my sincere gratitude to my school


biology teacher, Mrs. Pranita Sinha Mam, PGT
(Biology) who has been constant source of inspiration
and guidance .
She supported me with all the ideas and helped me to
the maximum extend possibilities. She 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 her guidance, teaching and support.

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Certificate

This is to certify that ‘Kartikey Keshari’ of class XII


ROSE has successfully completed his Biology Project
on the topic ‘Genetic Disorders’ for class XII
examination of Central Board of Secondary Education
for the session 2024-25 under the guidance of his
biology teacher Mrs. Pranita Sinha Mam.

Date:- Signature of Teacher

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INDEX
Introduction 5

History 6

Mendelian disorder 7

Autosomal dominant 8

Myotonic Dystrophy 9

Autosomal recessive 10

Sickle cell Anemia 11

X- linked dominant disorder 12

X- linked recessive disorder 13

Color blindness 14

Down’s Syndrome 15

Diagnosis 16

Treatment 17

Conclusion 18

Bibliography 19

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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 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:-

• Mendalian disorder, 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

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HISTORY

First there was Gregor 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 (1920-1958), Maurice Wilkins (1916-2004) ,
Rosalind Franklin (1920-1957), Francis Crick (1916-2004) , of
Britain and James 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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MENDALIAN 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.

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 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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AUTOSOMAL DOMINANT

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 Myotonic Dystrophy,


Huntington Disease, Polycystic Kidney disease, Gilbert’s
Syndrome, etc.

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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

10

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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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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

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manifestation as soft, yellow-pink nodules, and


pigmentary
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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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.

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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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Down’s Syndrome
Down’s Syndrome is a genetic disorder caused when
abnormal cell division results in extra genetic material from
chromosome 21 ( Trisomy 21).

Treatment Type Detail


Prenatal Pregnant women are often offered
Screening screening tests between weeks 10 –
14 to assess the risk of Down’s
Syndrome, including ultrasound scan
and tests.
Diagnostic Further tests like Amniocentesis and
Test CVS can provide definitive answer
For families Organization like Down syndrome
Association provide resources,
support group and information
Educational Early intervention programs and
Support special educational services enhance
learning opportunities of children
with Down’s Syndrome.

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

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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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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 :-


• [Link]
• [Link]
• [Link]
• [Link]
• NCERT Biology Class 12

THANKYOU
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Common questions

Powered by AI

Autosomal dominant disorders require only one altered copy of a gene from an affected parent for an individual to inherit the disorder. Each child of an affected parent has a 50% chance of inheriting the mutated gene and thus the disorder. In contrast, autosomal recessive disorders require two copies of the mutated gene, meaning both parents must be carriers. A carrier couple has a 25% chance with each pregnancy to have an affected child. Examples of autosomal dominant conditions include Huntington's disease, while sickle cell anemia serves as an example of an autosomal recessive disorder .

Prenatal screening and diagnostic testing play critical roles in the early detection and management of Down syndrome. Screening tests, typically performed between 10 to 14 weeks of pregnancy, assess the risk of Down syndrome using ultrasonography and biochemical markers. Diagnostic procedures such as amniocentesis or chorionic villus sampling can confirm a diagnosis by detecting chromosomal abnormalities. Early detection facilitates informed decision-making for prospective parents and allows for the planning of necessary medical and educational interventions, thus improving health outcomes and quality of life for affected individuals .

Widespread prenatal genetic diagnostics for genetic disorders could have profound societal implications, including ethical considerations about privacy, consent, and reproductive choices. These tests could lead to increased pressure on parents concerning pregnancy continuation decisions, potentially influencing societal norms and stigmas surrounding disabilities. Access disparities could deepen existing inequalities, and the information from these diagnostics might be misused for eugenic practices. While prenatal diagnostics offer medical and therapeutic benefits, they necessitate careful ethical deliberation and policy development to protect individuals' rights and foster equitable healthcare access .

Chromosomal disorders arise from abnormalities in chromosome number or structure, such as deletions, duplications, or translocations, affecting multiple genes. These disorders often result in multiple complex phenotypic symptoms due to the involvement of several genes. Down syndrome, caused by an extra copy of chromosome 21 (trisomy 21), is a well-known chromosomal disorder. In contrast, Mendelian disorders involve mutations in a single gene and follow Mendelian inheritance patterns. They typically have more specific and predictable inheritance outcomes and less complex phenotypes .

Gene therapy represents a promising approach to treating genetic disorders by correcting the genetic defects that cause these diseases. The process involves introducing a healthy copy of a mutant gene to the affected individual's cells, aiming to restore normal function or slow disease progression. Despite challenges such as targeted delivery to correct cell types, gene therapy provides a potential means to manage or even cure diseases at a genetic level, rather than merely treating symptoms. This advancement underpins the importance of ongoing clinical trials and research efforts to improve delivery systems and therapeutic outcomes .

Reduced penetrance in autosomal dominant disorders means that not every individual with the mutated dominant gene will express the disorder's traits or symptoms. Although an individual inherits a single mutated gene, various factors such as environmental influences or interactions with other genes may prevent the trait from manifesting. This concept explains why some people with the same genetic mutation might exhibit different degrees of symptoms or, in some cases, remain asymptomatic, complicating genetic prediction and counseling .

The foundational work by Gregor Mendel on inheritance patterns in pea plants laid the groundwork for our understanding of genetic inheritance, introducing concepts such as dominant and recessive traits. The subsequent discovery of the DNA structure by James Watson and Francis Crick further advanced the field, revealing the molecular basis for genetic heredity. These scientific milestones, along with the development of molecular biology, have led to the mapping of the human genome and enhanced our capabilities to diagnose, understand, and potentially treat genetic disorders .

X-linked recessive disorders are inherited through the X chromosome. Males are more frequently affected since they have only one X chromosome, making them susceptible to any recessive genetic trait carried on it, such as color blindness. Females are typically carriers because they have two X chromosomes; the unaffected X chromosome can compensate for the other carrying the recessive gene. A daughter can only be affected if she inherits the recessive gene from both parents. In color blindness, particularly red-green color blindness, males express the disorder if they inherit the affected X chromosome from their mother .

Mendelian disorders, also known as monogenic disorders, are caused by mutations in a single gene. They follow Mendelian inheritance patterns and can occur on either autosomes or sex chromosomes. These disorders can manifest in either dominant or recessive modes. Dominant Mendelian disorders require only one mutated gene to present the disorder, whereas recessive disorders require two copies of the mutated gene. Such disorders have a clear genetic phenotype expression and can be identified through pedigree analysis, illustrating their inheritance pattern across generations .

Sickle cell anemia results from a mutation in the hemoglobin gene located on chromosome 11, where the mutant allele produces abnormal hemoglobin (hemoglobin S). This abnormal hemoglobin causes red blood cells to become rigid and sickle-shaped, particularly under low oxygen conditions. The malformed cells cause vascular obstruction and severe anemia, leading to symptoms such as joint pain, dizziness, and fatigue due to low oxygen levels in the body. Organ damage, particularly in vital organs such as the liver and brain, can also occur due to these complications .

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