MOUNT LITERA ZEE SCHOOL

(Affiliated to CBSE , NEW DELHI-1930813)

SIVAKASI – 626130.
MARCH-2024

PROJECT REPORT ON
GENETIC DISORDERS

BIOLOGY FOR CLASS- XII

SUBJECT CODE : 044 (2023-24)

Submitted by

PRIYANSHI M.

(ROLL NO: )

PROJECT GUIDE

M.RAJESH MUTHU M.Sc,B.Ed,PGDCA.

INTERNAL EXAMINER PRINCIPAL EXTERNAL EXAMINER

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 MOUNT LITERA ZEE SCHOOL
(Affiliated to CBSE , NEW DELHI-1930813)

SIVAKASI – 626130.

BONAFIDE CERTIFICATE

This is to certify that Priyanshi M. Reg.No. of Grade

XI of Mount Litera Zee School, Sivakasi has successfully

completed her Investigatory project work under my guidance for

the academic year 2023-24. She has taken proper care in

completing this project. I certify that this Investigatory project is

up to my expectation and as per the CBSE guidelines.

INTERNALEXAMINER PRINCIPAL EXTERNALEXAMINER

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 MARCH 2024

DECLARATION

I declare that the Investigatory Project entitled BIOLOGY

PROJECT REPORT ON GENETIC DISORDERS is the
result of a study originally carried out by me under the
guidance of M.RAJESH MUTHU,PGT-BIOLOGY
TEACHER,MOUNT LITERA ZEE SCHOOL,SIVAKASI –
626130.

Signature of the Candidate

(Priyanshi)

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 ACKNOWLEDGEMENT

“Thankfulness is to God immense who gives us the triumph”

I wish to record my sincere thanks to The Management,

Principal and Staff Members, MOUNT LITERA ZEE

SCHOOL (CBSE), SIVAKASI for their valuable help

rendered to me in providing me the facilities.

It is impossible to express my indebtedness to my

Guide M.RAJESH MUTHU, MOUNT LITERA ZEE

SCHOOL (CBSE), SIVAKASI for the dynamic guidance,

constant help, sincere and compassionate advices,

patience and insightful discussion and parental care for

completion of this project work.

Last but not the least, I express my gratitude to

Almighty for giving me strength and health to finish

this work successfully.

(PRIYANSHI M.)

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 GENETIC
DISORDERS

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 INDEX

Introduction

History

Genetic disorder

Types of genetic disorders

Pedigree analysis

Von willebrand disease

Cystic fibrosis

Huntington’s disease

Amyotrophic lateral sclerosis (als)

Cancer

Thalassemia

Recent researches on article

Conclusion

Bibliography

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 INTRODUCTION

Genes are the building blocks of heredity. They are passed from parent to child.
They hold DNA, the instructions for making proteins. Proteins do most of the work
in cells. They move molecules from one place to another, build structures, 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 instructions for making a protein, so the protein does not work properly
or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also
happen during your lifetime.

There are three types of genetic disorders:

 Single-gene disorders, where a mutation affects one gene. Sickle cell anemia
is an example.
 Chromosomal disorders, where chromosomes (or parts of chromosomes) are
missing or changed. Chromosomes are the structures that hold our genes.
Down syndrome is a chromosomal disorder.
 Complex disorders, where there are mutations in two or more genes. Often
your lifestyle and environment also play a role. Colon cancer is an example.
Genetic tests on blood and other tissue can identify genetic disorders.

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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
molecule. This has led us to understanding the human genome sequence.

Gregor Mendel 1866 published the results of his investigations 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 molecule and proved that genes
determine heredity.

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 GENETIC DISORDERS

A genetic disorder is a condition that is caused by an abnormality in an

individual’s DNA. Abnormalities can be as small as a single-base mutation in just
one gene, or they can involve the addition or subtraction of entire chromosomes.

As we unlock the secrets of the human genome (the complete set of human genes),
we are learning that nearly all diseases have a genetic component. Some diseases
are caused by mutations that are inherited from the parents and are present in an
individual at birth, like sickle cell disease. Other diseases are caused by acquired
mutations in a gene or group of genes that occur during a person’s life. Such
mutations are not inherited from a parent, but occur either randomly or due to some
environmental exposure (such as cigarette smoke). These include many cancers, as
well as some forms of neurofibromatosis.

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 TYPES OF GENETIC DISORDERS

Mendelian Disorder

These disorders occur due to mutations in a single gene and can be easily detected
by pedigree analysis.

These disorders can be autosomal dominant, autosomal recessive, sex-linked

dominant, sex-linked recessive, and mitochondrial.

The most common Mendelian disorders include:

 Cystic fibrosis (autosomal recessive)

 Haemophilia (sex-linked recessive)
 Albinism (autosomal recessive)
 Sickle cell anaemia (autosomal recessive)

Chromosomal Disorder

These disorders are caused by any alteration in the number or structure of the
chromosomes. Sometimes the whole chromosome is gained or lost. This type of
disorder is usually fatal and affects many genes.

Some of the major chromosomal abnormalities are:

 Down’s syndrome- the addition of a chromosome 21 (trisomy)

 Turner’s syndrome-absence of an X chromosome (XO)
 Kleinfelter’s syndrome-addition of an X chromosome (XXY)

Multifactorial Genetic Inheritance

This is also known as polygenic inheritance. These are caused as a result of

environmental factors and gene mutations.

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Some of the examples of this kind of disorder are:

 Heart disease
 High blood pressure
 Alzheimer’s disease
 Obesity
 Diabetes
 Cancer
 Arthritis

Mitochondrial Inheritance

This type of genetic disorder is caused by mutations in the non-nuclear

mitochondrial DNA. The mitochondrial DNA is inherited from the mother. Some
of the diseases caused due to mitochondrial inheritance are:

 Leber’s Hereditary Optic Atrophy (LHON)

 Myoclonic epilepsy with ragged red fibres
 Mitochondrial encephalopathy
 Lactic acidosis

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 PEDIGREE ANALYSIS
An analysis of traits in several of generations of a family is called pedigree
analysis. In pedigree analysis the inheritance of a particular trait is represented in.
the family tree over generations.

In Human Genetics, pedigree provides a strong tool, which is utilised to trace the
inheritance of a specific trait, abnormality or disease.

It is evident that control crosses that can be performed in pea plant or some other
organisms, are not possible in case of human beings, study of the family history
about inheritance of a particular trait provides an alternative.

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 VON WILLEBRAND DISEASE

 An inherited bleeding disorder that results from low levels of specific

clotting protein in blood.
 Common (More than 10 lakh cases per year in India).
 Treatment from medical professional advised.
 Requires lab test or imaging.
 Can last several years or be lifelong.
 May be dangerous or life threatening.
 Family history may increase likelihood.
 Emergency room visit recommended in severe cases.

SYMPTOMS:

Major symptom is abnormal bleeding. Most of the time it is mild and severity
varies depending on the type of the condition. The most common symptoms are:

 Abnormal bleeding after an injury, dental cleaning or surgery.

 Nose bleeding which last longer.
 Heavy menstrual bleeding.
 Blood in urine or stool.
 Easy bruising.

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DIAGNOSIS:

Diagnosis involves evaluating medical history and checking for bruises or other
bleeding sign.

TREATMENT:

Non-replacementtherapy: Stimulates the body to release von Willebrand disease

e.g. desmoprsin

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 CYSTIC FIBROSIS

Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and
digestive system. Cystic fibrosis is also known as mucoviscidosis. It is an inherited
disorder which causes severe damage to the lungs, digestive system, and other
organs in the body. Mucoviscidosis affects the cells which produce mucus, sweat,
and digestive juices. These secreted fluids are normally thin and slippery.

SYMPTOMS:

 The most common symptoms of cystic fibrosis are:

 Salty-tasting skin, which parents notice when they kiss their child.
 Frequent coughing, wheezing, or bouts of pneumonia or sinusitis.
 Difficulty breathing that keeps getting worse.
 Big appetite but poor weight gain.
 Bulky, smelly, greasy bowel movements.

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DIAGNOSIS:

 Immunoreactive trypsinogen in blood: To monitor the levels of

Immunoreactive trypsinogen in the blood of newborn
 Sweat test: Performed by placing a sweat inducing chemical in the body to
check the salt content.
 Genetic test: Genetic screening test for defective gene mutation

TREATMENT:

MEDICATION -

 Antibiotics: Given in the form of inhaled therapy to improve lung function

by impeding growth of bacteria. Tobramycin
 Anti-inflammatory drugs: To prevent inflammation in the airway passage.
Ibuprofen
 Mucus thinners: To help patients cough up mucus and improve lung
function. Acetylcysteine
 Brochiodialators: To open up and relax muscles around the brochia (lungs).
Albuterol.

THERAPY -

 Enzyme replacement therapy: Oral pancreatic enzymes such as lipase,

protease, amylase to help in the absorption of nutrients in the digestive tract.
 Chest physical therapy: To help loosen mucus. A common technique is
clapping with cupped hands on the front and back of the chest.

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 HUNTINGTON’S DISEASE

Huntington’s disease is an inherited disease that causes the progressive breakdown

(degeneration) of nerve cells in the brain. Huntington’s disease has a broad impact
on a person’s functional abilities and usually results in movement, thinking
(cognitive) and psychiatric disorders.

Most people with Huntington’s disease develop signs and symptoms in their 30s or
40s. But the disease may emerge earlier or later in life.

When the disease develops before age 20, the condition is called juvenile
Huntington’s disease. An earlier emergence of the disease often results in a
somewhat different set of symptoms and faster disease progression.

Medications are available to help manage the symptoms of Huntington’s disease,

but treatments can’t prevent the physical, mental and behavioral decline associated
with the condition.

SYMPTOMS:

Huntington’s disease causes movement, cognitive, and psychiatric disorders, with

symptoms widely varying between individuals.

Movement disorders:

 Chorea – Involuntary jerking or writhing movements.

 Tremors.

Cognitive disorders:

 Problems with organizing, prioritizing, or retaining focus on tasks.

 Getting stuck on thoughts, behavior, or action.
 Lack of control over impulses.

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Psychiatric disorders:

 Depression and/or mania, irritability, social withdrawal, insomnia etc.

DIAGNOSIS:

Neurological examination: - Reflexes – Muscle tone and strength – Balance and

coordination – Hearing and vision – Sense of touch

Psychological examination: - Memory and reasoning – Language – Mental agility

Ability to judge – Emotional state – Substance abuse

TREATMENT:

 Monoamine depletors: Drugs to treat involuntary and writhing movements.

Tetrabenazine. Amantadine
 Antidepressants: Antidepressants to treat depression. Fluoxetine. Sertraline
 Antipsychotic drugs: Antipsychotic drugs to reduce symptoms of mood
disorders and psychosis. Quetiapine. Risperidone.
 Mood stabilisers: Mood-stabilizing drugs to manage symptoms of bipolar
disorder. Carbamazepine

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 AMYOTROPHIC LATERAL SCLEROSIS (ALS)

ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease

that affects nerve cells in the brain and the spinal cord. A-myo- trophic comes from
the Greek language. “A” means no. “Myo” refers to muscle, and “Trophic” means
nourishment – “No muscle nourishment.”

When a muscle has no nourishment, it “atrophies or wastes away. “Lateral”

identifies the areas in a person’s spinal cord where portions of the nerve cells that
signal and control the muscles are located. As this area degenerates, it leads to
scarring or hardening (“sclerosis”) in the region

SYMPTOMS:

 Weakness in your leg. Feet or ankles

 Difficulty walking or doing your normal
daily activities
 Hand weakness or clumsiness
 Slurred speech or trouble swallowing
 Muscle cramps and twitching in your arms,
shoulders, and tongue
 Difficulty holding your head up or keeping
good posture
 Tripping and falling

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DIAGNOSIS:

 Electromyography (EMG): To check the electrical activity of muscles

when they contract and relax.
 Nerve conduction studies: Tests the ability of muscle to send signals to
other parts.
 Blood test: Levels of certain chemicals in the blood will be analyzed
 Urine test: Helps to rule out other possible causes.

TREATMENT:

 Glutamate antagonist: This drug helps reduce building up of glutamate in

the brain. Riluzole
 Neuroprotective agent: This drug helps to preserve brain functions and
structure. Edaravone
 Physical therapy: Physiotherapist may suggest low-impact exercises which
will help cardiovascular fitness. Therapy may also improve the ability to
walk. Doctor may suggest the use of brace, walker or wheelchair.

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 CANCER

Cancer is a group of diseases involving abnormal cell growth with the potential to
invade or spread to other parts of the body. Cancer is the second leading cause of
death globally, accounting for an estimated 9.6 million deaths, or 1 in 6 deaths, in
2018.

SYMPTOMS:

 Some common early cancer symptoms include:

 Unexplained weight loss.
 Chronic tiredness.
 Persistent pain.
 Fever that occurs mostly at night.
 Skin changes, particularly moles that change shape and size or new moles.
 Left untreated, cancer may cause additional symptoms, including:
 Bruising or bleeding more easily.
 Lumps or bumps under your skin that don’t go away.
 Difficulty breathing.

DIAGNOSIS:

 Physical exam: The doctor examines for any lumps that may indicate
cancer.
 Laboratory tests: Urine and blood tests are taken.
 Imaging tests: CT scan, bone scan, MRI, PET scan, ultrasound and X-ray.
 Biopsy: Sample of cells for testing in the laboratory is collected.

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TREATMENT:

 Chemotherapy: Uses drugs to kill cancer cells.

 Hormone therapy: Slows or stops the growth of breast and prostate cancers
that use hormones to grow.
 Surgery: Surgeon removes cancer from your body.
 Hyperthermia: Body tissue is heated to as high as 113 °F to help damage
and kill cancer cells.
 Immunotherapy: Helps your immune system fight cancer.
 Photodynamic therapy: Uses a drug activated by light to kill cancer and
other abnormal cells.
 Radiation therapy: Uses high doses of radiation to kill cancer cells and
shrink tumors.
 Stem cell transplant: Restore stem cells that grow into blood cells in people
who have had theirs destroyed by high doses of chemotherapy or radiation
therapy.

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 THALASSEMIA
Thalassemia is an inherited blood disorder characterized by less oxygen-carrying
protein (hemoglobin) and fewer red blood cells in the body than normal. This
condition causes both males and females to inherit the relevant gene mutations
equally because it follows an autosomal pattern of inheritance with no preference
for gender.

SYMPTOMS:

 Fatigue
 Weakness
 Pale or yellowish skin
 Facial bone deformities
 Slow growth
 Abdominal swelling
 Dark urine

DIAGNOSIS:

 Blood tests: Can reveal the number of red blood cells and abnormalities in
size, shape or color. Blood tests can also be used for DNA analysis to look
for mutated genes.
 Chorionic villus sampling: Usually done around the 11th week of
pregnancy, this test involves removing a tiny piece of the placenta for
evaluation.

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  Amniocentesis: Usually done around the 16th week of pregnancy, this test
involves examining a sample of the fluid that surrounds the fetus.

TREATMENT:

 Frequent blood transfusions - More severe forms of thalassemia often

require frequent blood transfusions, possibly every few weeks. Over time,
blood transfusions cause a buildup of iron in your blood, which can damage
your heart, liver and other organs.
 Chelation therapy - This is treatment to remove excess iron from your
blood. Iron can build up as a result of regular transfusions. Some people with
thalassemia who don’t have regular transfusions can also develop excess
iron.
 Stem cell transplant - Also called a bone marrow transplant, a stem cell
transplant might be an option in some cases. For children with severe
thalassemia, it can eliminate the need for lifelong blood transfusions and
drugs to control iron overload.

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 RECENT RESEARCHES ON ARTICLE:

VON WILLEBRAND DISEASE:

Over recent years, substantial progress has been achieved in elucidating the
biological roles of VWF. Significant advances have also been made into defining
the pathophysiological mechanisms underpinning both quantitative and qualitative
VWD. In particular, several new laboratory assays have been developed that
enable more precise assessment of specific aspects of VWF activity.

CYSTIC FIBROSIS:

Recent work has presented definitive evidence that the Pseudomonas cells that
infect the lung in cystic fibrosis grow in the biofilm phenotype. These unequivocal
data establish this chronic infection of compromised hosts as the archetypal biofilm
infection, which is both refractory to antibiotic therapy and barely affected by host
defenses.

AMYOTROPHIC LATERAL SCLEROSIS:

Five such studies, based in Europe and North America, have been published and
show remarkably consistent incidence figures among their respective Caucasian
populations. Population based studies have been useful in defining clinical
characteristics and prognostic indicators in ALS. However, many epidemiological
questions remain that cannot be resolved by any of the existing population based
datasets. The working hypotheses is that ALS, like other chronic diseases, is a
complex genetic condition, and the relative contributions of individual
environmental and genetic factors are likely to be relatively small. Larger studies
are required to characterize risks and identify subpopulations that might be suitable
for further study.

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HUNTIGTON’S DISEASE:

Due to the nature of the symptoms, the genetic element of the disease, and the fact
that there is no cure, HD patients and those in their support network often
experience considerable stress and anxiety. With an expansion in Internet access,
individuals affected by HD have new opportunities for information retrieval and
social support.

CANCER:

The discovery of immune checkpoint inhibition mechanisms in cancer cells has led
to the development of immune checkpoint inhibitors that have benefited many
cancer patients.

The latest novel areas of cancer research: exosomes, microbiome, immunotherapy.

And organoids.

THALASSEMIA:

In the last years two major advances have substantially changed the prognosis of
the patients with thalassemia major: the introduction in the clinical use of the oral
iron chelators and the development of non-invasive methods for the assessment of
specific organ iron overload.

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 CONCLUSION:

In conclusion, gene mutation in general causes genetic changes which can lead to
diseases. Genes are the basic unit of heredity. They hold the genetic information in
the form of DNA which can be translated into useful proteins to carry out life
processes. These genes undergo a mutation sometimes, which changes the
instructions to formulate the protein, due to which the protein does not work
properly. Such disorders are known as genetic disorders. Some genetic disorders
are innate, i.e., present by birth, while others are acquired due to mutations in a
particular gene. The genetic disorders that are present by birth are inherited from
parents, e.g. cystic fibrosis, haemophilia, sickle cell anaemia, etc. The genetic
disorders that are acquired during the lifetime are not inherited from parents, these
occur due to mutations that occur randomly or due to exposure to certain
chemicals, environments or radiations such as cigarette smoke, UV radiations, etc.
Cancer is one such disease. A genetic disorder may be caused by a mutation in a
single gene or multiple genes. It can also be due to changes in the number or
structure of chromosomes. The three types of Gene mutation: substitution, which is
the change some nucleotides, the other type is insertion which is the add of some
nucleotides to a gene and final type of mutation is deletion which is the less of one
or more nucleotides in a gene. All of this types of mutation causes same effect in
produce protein. This effect is loss of stability and expression on protein. Mutation
causes many diseases such as Infertility, muscular atrophy, Sickle cell anemia,
breast cancer, cervical cancer and gastric cancer. The four types of genetic disorder
are ; mendelian disorder, chromosomal disorder’ multi factorial genetic inheritance
and mitochondrian inheritance. In Human Genetics, pedigree provides a strong
tool, which is utilised to trace the inheritance of a specific trait, abnormality or
disease.

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 BIBLIOGRAPHY

 NCERT Text book for Class XII of Biology.

 Together With CBSE Class 12 Biology, RachnaSagarPvtLtd,New Delhi 15
March 2023
 Handbook of FAQs on Basic Genetics and Common Genetic Disorders for
Students 2022 By Komal Uppal

REFERENCE

 Oswaal books & learning PVT.LTD(2023-24),19th edition Biology Book

 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316733/

 https://en.m.wikipedia.org/wiki/Genetic_disorder

 https://www.scribd.com/document/443047450/INVESTIGATORY-
PROJECT-BIOLOGY-2

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