p.m.

shri Kendriya Vidyalaya

no.2,Hubballi

INVESTIGARTORY PROJECT
2023-2024

TOPIC: TO STUDY ABOUT

DIFFERENT GENETIC DISORDER

Submitted to: MRS.GEETHA PILLAI

(PGT BIOLOGY)

Submitted by: SHRUJAN . G . ULLIKASHI

 INDEX

S. No. TOPIC
1 CERTIFICATE
2 ACKNOWLEDGEMENT
3 INTRODUCTION
4 GENETIC DISORDER
5 MENDELIAN DISORDER
6 TYPES OF MENDELIAN DISORDER
7 CHROMOSOMAL DISORDER
8 TYPES OF CHROMOSOMAL
DISORDER
9 BIBLIOGRAPHY
 CERTIFICATE

This is to certify that SHRUJAN.G.ULLIKASHI, a student of class

XII-A has successfully completed project title “TO STUDY ABOUT
DIFFERENT GENETIC DISORDER” under the guidance of
MRS.GEETHA PILLAI [PGT BIOLOGY] during academic year
2023-24 in partial fulfillment of Biology practical examination
conducted by CBSE.

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PRINCIPAL SIGNATURE TEACHER SIGNATURE

--------------------------------
EXTERNAL EXAMINAR SIGNATURE
 ACKNOWLEDGEMENT

In the accomplishment of this project successfully, many people have

best owned upon me their blessings and the heart pledged support, this
time I am utilizing to thank all the people who have been concerned
with this project.

Primarily I would Thank God for being able to complete this Project
with success. Then I would like to thank my In-charge principal and
Biology teacher Mrs.Geetha Pillai, whose valuable guidance has
been the one that helped me patch this project and make it full Proof
success her suggestions and her instructions had served as the Major
contribution towards the completion of the project.

Then I would like to thank my parents and my friends who have helped
me with their valuable suggestions and guidance has been helpful in
various phases of the completion of the Project.
 INTRODUCTION
THE HUMAN BODY IS COMPOSED UP OF CELL,EACH ONE
SPECIALIZING A PARTICULAR FUNTION LIKE SENSING
LIGHT,SMELLING ETC.SO THE CHROMOSOMES WHICH ARE THE
SUB CELLULAR STRUCTURE THAT EXIST IN THE NUCLEUS OF
EACH CELL THAT MAKES A HUMAN BODY.THERE ARE 23 PAIRS OF
CHROMOSOMES IN HUMAN,THESE CHROMOSOME ARE
RESPONSIBLE FOR TRANSFERRING GENETIC INFORMATION FROM
ONE GENERATION TO ANOTHER.

MOST PEOPLE HAVE THE CONCEPT THAT GENETIC DISEASE MUST

BE THE ONE WHICH IS TRANSMITTED FROM ONR GENERATION TO
NEXT . ACTUALLY THIS IS NOT TOTALLY CORRECT . IN MEDICINE
GENETIC DISEASES REFERS TO ONE THAT IS CAUSED BY
ABNORMILITIES OF THE GENETIC MATERIAL AT THE STAGE OF
GERM CELLS OR EARLY EMBRYO.
GENETIC DISORDER

❖ Genetic disorders occur when a mutation (a harmful change to a gene,

also known as a pathogenic variant) affects your genes or when you have
the wrong amount of genetic material. Genes are made of DNA
(deoxyribonucleic acid), which contain instructions for cell functioning
and the characteristics that make you unique.

❖ WHAT IS THE CAUSE OF GENETIC DISORDER?

❖ To understand genetic disorder causes, it’s helpful to learn more

about how your genes and DNA work. Most of the DNA in your
genes instructs the body to make proteins. These proteins start
complex cell interactions that help you stay healthy.
❖ When a mutation occurs, it affects the genes’ protein-making
instructions. There could be missing proteins. Or the ones you have
do not function properly. Environmental factors that could lead to a
genetic mutation include:

▪ Chemical exposure.
▪ Radiation exposure.
▪ Smoking.
▪ UV exposure from the sun.

➢ What are the symptoms of genetic disorders?

SOME SYMPTOMS OF GENETIC DISORDER ARE LISTED BELOW:

➢ Behavioural changes or disturbances.

➢ Breathing problems.
➢ Cognitive deficits, when the brain can’t process information as it should.
➢ Developmental delays that include challenges with speech or social skills.
➢ Eating and digestive issues, such as difficulty swallowing or an inability to
process nutrients.
➢ Limb or facial anomalies, which include missing fingers or a cleft lip and
palate.
➢ Movement disorders due to muscle stiffness or weakness.
➢ Neurological issues such as seizures or stroke.
➢ Poor growth or short stature.
How are genetic disorders identified?

o Carrier testing: This blood test shows whether you or your partner carry
a mutation linked to genetic disorders. This is recommended for everyone
considering pregnancy, even if there is no family history.
o Prenatal screening: This testing usually involves blood testing from a
pregnant woman that tells a person how likely it is that an unborn child
could have a common chromosome condition.
o Prenatal diagnostic testing: You can find out whether your unborn child
faces a higher risk for certain genetic disorders. Prenatal testing uses a
sample of fluid from the womb (amniocentesis).
o Newborn screening: This test uses a sample of your newborn baby’s
blood and is performed on all babies born in Ohio. Detecting genetic
disorders early in life can help your child receive timely care if needed.

What is treatment for genetic disorders like?

✓ Most genetic disorders do not have a cure. Some have treatments

that may slow disease progression or lessen their impact on your
life. The type of treatment that’s right for you depends on the type
and severity of the disease. With others, we may not have
treatment but we can provide medical surveillance to try to catch
complications early.

We may need:

▪ Medications to manage symptoms or chemotherapy to slow

abnormal cell growth.
▪ Blood transfusion to restore levels of healthy blood cells.
▪ Surgery to repair abnormal structures or treat complications.
▪ Specialized treatments, such as radiation therapy for cancer.
▪ Organ transplant, which is a procedure to replace a non-
functioning
Mendelian Disorder

Mendelian disorders are the genetic disorders caused at a single genetic

locus.

What are Mendelian Disorders?

In humans, Mendelian disorder is a type of genetic disorder primarily resulting
due to alterations in one gene or as a result of abnormalities in the genome.
Such a condition can be seen since birth and be deduced on the basis of family
history using the family tree. The analysis hence carried out is known as
pedigree analysis.
These genetic disorders are quite rare and may affect one person in every
thousand or a million. Genetic disorders may or may not be inherited.
Inheritable genetic disorders usually occur in the germ line cells, whereas in
non-inheritable genetic disorders the defects are generally caused by new
mutations or due to some changes in the DNA. For instance, cancer may either
be caused by an inherited genetic condition, or by a new mutation caused by the
environmental causes.

TYPES OF MENDELIAN DISORDER:

❖ Autosomal dominant.
❖ Autosomal recessive.
❖ Sex-linked dominant.
❖ Sex-linked recessive.
❖ Mitochondrial.

The various types of Mendelian disorders can be identified easily from the
pedigree analysis.

Examples of Mendelian Disorders

Few examples of the Mendelian disorder in humans are

• Sickle cell anaemia

• Muscular dystrophy
• Cystic fibrosis
• Thalassemia
• Phenylketonuria
• Colour blindness
• Skeletal dysplasia
• Haemophilia
➢ Haemophilia

o This is a type of sex-linked recessive disorders. According to the genetic

inheritance pattern, the unaffected carrier mother passes on the
haemophilic genes to sons.
o It is a very rare type of disease among females because for a female to get
the disease, the mother should either be haemophilic or a carrier but the
father should be haemophilic.
o This is a disorder in which blood doesn’t clot normally as the protein
which helps in clotting of blood is affected. Therefore, a person suffering
from this disease usually has symptoms of unexplained and excessive
bleeding from cuts or injuries.
o This type of genetic disorder is caused when the affected gene is located
on the X chromosomes. Therefore, males are more frequently affected.

➢ Sickle-cell anaemia

• This is a type of autosomal recessive genetic disorder.

• According to Mendelian genetics, its inheritance pattern follows
inheritance from two carrying parents.
• It is caused when the glutamic acid in the sixth position of the beta-globin
chain of haemoglobin molecule is replaced by valine. The mutant
haemoglobin molecule undergoes a physical change which changes the
biconcave shape into the sickle shape.
• This reduces the oxygen-binding capacity of the haemoglobin molecule.

➢ Phenylketonuria

• This genetic disorder is autosomal recessive in nature.

• It is an inborn error caused due to the decreased metabolism level of the
amino acid phenylalanine.
• In this disorder, the affected person does not have the enzyme that
converts phenylalanine to tyrosine. As a result, phenylalanine
accumulation takes place in the body and is converted into many
derivatives which result in mental retardation.

➢ Thalassemia

This is a type of disorder in which the body makes an abnormal amount of

haemoglobin. As a result, a large number of red blood cell

It is an autosomal recessive disease.

 Facial bone deformities, abdominal swelling, dark urine are some of the
symptoms of thalassemia.

CHROMOSOMAL DISORDER
✓ Chromosomes at carry hereditary information within the sort of genes
which are passed from parents to offspring. Every species features a
characteristic structure and number of chromosomes present. Due to
certain irregularities at the time of cell division, alteration in the structure
or number of chromosomes may happen. Even the slightest alteration can
lead to various abnormalities. Changes in one chromosome parts, whole
chromosome or chromosomal sets are known as “chromosomal
aberrations”.

➢ Chromosomal Disorders in Humans

✓ There are 46 chromosomes in each human cell present as 23 pairs (n
pairs), out of which 22 are autosomes and 1 pair of sex chromosomes.
✓ Chromosomal disorders are caused because of the structural changes or
numerical changes in chromosomes.

➢ Disorders Due to Numerical Abnormalities

Chromosomal disorders are caused due to the change in the number of
chromosomes present. This can be categorised into various types:-

• Aneuploidy: loss or gain of a chromosome. This happens due to non-

disjunction of chromatids when chromatids fail to separate during cell
division. This results in one gamete having two copies of one chromosome
and the other having no chromosome.

i.Trisomy: The cell has one extra chromosome (2n+1)

ii.Monosomy: The cell has one chromosome less (2n-1)

Aneuploidy can be due to nondisjunction of autosomes i.e. chromosomes

1-22 or sex chromosomes.
• Chromosomal Disorders Due to Aneuploidy: This is the cause of most
of the genetically inherited disorders and abortion during pregnancy
• Euploidy: Loss or gain of the entire set of chromosomes. Mostly occurs
in plants.
• Polyploid: Addition of one or more sets of chromosomes, e.g. ‘3n
(triploid)’, ‘6n (hexaploid)’ etc.
• Haploid: Loss of one set of the chromosomes, i.e. ‘n’ number of
chromosomes

IMPORTANT CHROMOSOMAL DISORDER

➢ DOWN’ S SYNDROME

• Down syndrome or Down's syndrome, also known as trisomy 21, is a

genetic disorder caused by the presence of all or part of a third copy of
chromosome 21. It is usually associated with physical growth delays, mild
to
➢ Moderate intellectual disability, and characteristic facial features. The
average IQ of a young adult with Down syndrome is 50, equivalent to the
mental ability of an eight- or nine-year-old child, but this can vary widely.

➢ There is no cure for Down syndrome. Education and proper care have
been shown to improve quality of life. Some children with Down
syndrome are educated in typical school classes, while others require
more specialized education. Some individuals with Down syndrome
graduate from high school, and a few attend post-secondary education.

➢ KLINEFELTER’S SYNDROME

Klinefelter syndrome (sometimes called Klinefelter's, KS or XXY) is

where boys and men are born with an extra X chromosome.
Chromosomes are packages of genes found in every cell in the body.
➢ Klinefelter's syndrome isn't inherited, but rather occurs only as a result of
a random genetic error after conception.
➢ Males born with Klinefelter's syndrome may have low testosterone and
reduced muscle mass, facial hair and body hair. Most males with this
condition produce little or no sperm.
 ➢ Treatment may include testosterone replacement and fertility treatment.

➢ TURNER’S SYNDROME
➢ Caused by xo genotype .This genotype results from the union of an
abnormal O egg with normal X or a normal X egg with abnormal O
sperm .
➢ The individual has 45 chromosome (2n -1)
➢ Turner syndrome, a condition that affects only females, results when one
of the X chromosomes (sex chromosomes) is missing or partially
missing. Turner syndrome can cause a variety of medical and
developmental problems, including short height, failure of the ovaries to
develop and heart defects

➢ What are the symptoms of Turner syndrome?

• Grow more slowly than their peers during childhood and adolescence.
• Have delayed puberty and lack of growth spurts, resulting in an average
adult height of 4 feet, 8 inches. (If diagnosed early, growth hormone
can help the person

Another symptom is not experiencing typical sexual development. Most females

with TS:

✓ Don't experience breast development.

✓ May not have menstrual periods.

✓ Have small ovaries that may only function for a few years or not at all.

✓ Typically don't go through puberty, unless they get hormone therapy in

late childhood and early teens.

✓ Don't make enough sex hormones.

Besides short stature, females with Turner syndrome often have certain physical
traits:

• Broad chest.
• Dental problems.
• Eye problems, such as a lazy eye or drooping eyelids.
• Scoliosis, when the spine curves sideways.
• Low hairline at the back of the neck.
• Many skin moles.
• Missing knuckle in a particular finger or toe, making the digit shorter.
• Narrow fingernails and toenails.
• Small lower jaw.
• Swelling of the hands and feet.
• Unusually short, wide neck or webbed neck (extra skin folds).

BIBLOGRAPHY:

➢ GUIDANCE FROM TEACHER

➢ BIOLOGY NCERT TEXTBOOK FOR CLASS XII.
➢ www.wikipedia.com

THANKYOU