Biology Investigatory Project

On
Genetic Disorders
Session - 2024-25

Projected by - Mohan Pyare Sharma

Class - XII

Roll No:
 CERTIFICATE

This is to certify that Mohan Pyare Sharma of class XII has completed his

Biology project titled Genetic Disorders under the guidance of Mrs. Kopal

Sharma. The certified student has been dedicated throughout his research and

completed his work before the given deadline without missing any important

details from the project.

Teacher signature Student Signature

Principle Signature
 ACKNOWLEDGEMENT

I would like to express my special thanks to our subject

Teacher Mrs. Kopal Sharma for her time and efforts she
provided throughout the year. Your useful advice and
suggestions were really helpful to me during the project’s
completion. In this aspect, I am eternally grateful to you.

Signature

Mohan Pyare Sharma

 INDEX
[Link] are Genetic Disorders?

[Link]

3. Pedigree Analysis

4. Mendelian Disorders

[Link]- cell anemia

[Link]

[Link]

[Link]

[Link] Disorders

[Link] Syndrome

11. Klinefelter’s Syndrome

[Link]’s Syndrome
What are genetic disorders?

 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.

 You receive half your genes from each biological parent

and may inherit a gene mutation from one parent or both.

 Sometimes genes change due to issues within the DNA

(mutations). This can raise your risk of having a genetic
disorder. Some cause symptoms at birth, while others
develop over time.

 Genetic disorders can be:

 Chromosomal: This type affects the structures that hold

your genes/DNA within each cell (chromosomes). With
these conditions, people are missing or have duplicated
chromosome material.

 Complex: These disorders stem from a combination of

gene mutations and other factors. They include chemical
exposure, diet, certain medications and tobacco or
alcohol use.

 Single-gene (monogenic): This group of conditions

occurs from a single gene mutation.

 When a mutation occurs , it affects the genes protein

 making instructions .Environmental factors ( also called
mutagens ) that could lead to a genetic mutation includes
:

 Chemical exposure , Radiation exposure , smoking etc .

 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.
Pedigree Analysis.

 Pedigree analysis was developed to understand the

inheritance of genes from parents to offspring. It was
developed as a chart that can represent a family tree
along with the family members and their genetic traits.

 Gregor Mendel’s experiments showed that the “factors”

that we now know as “genes”, are the factors which are
responsible for the inheritance of traits from parents to
offspring.

 Therefore, genes are the hereditary unit of organisms

which are responsible for carrying the information from
the parents to their offspring.

Diagrammatic representation of Pedigree chart.

● A number of disorders in human beings have been found to

be associated with the inheritance of changed or altered
genes or chromosomes.
Mendelian Disorders.

 “Mendelian disorders are the genetic disorders caused at

a single genetic locus.”

 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.

 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

germline cells, whereas in non-inheritable genetic
disorders the defects are generally caused by new
mutations or due to some changes in the DNA.

Examples:-

 Sickle cell
Anemia
 Thalassemia
 Phenylketonuria
 Haemophilia
1. Sickle-cell anemia

 Sickle cell disease is a group of inherited red blood cell

disorders that affect hemoglobin, the protein that carries
oxygen through the body.

 In sickle cell disease, red blood cells become crescent-or

“sickle”-shaped due to a genetic mutation. These sickled
red blood cells do not bend or move easily and can block
blood flow to the rest of the body.

 This is an autosome linked recessive trait that can be

transmitted from parents to the offspring when both the
partners are carrier for the gene (or heterozygous). The
disease is controlled by a
 single pair of allele, HbA and HbS.

 The blocked blood flow through the body can lead to

serious problems, including stroke, eye problems,
infections, and episodes of pain called pain crises.

 A bone marrow transplant was the only cure for sickle cell
disease.

 In December 2023, two new therapies was approved to

treat the disease. One approach adds a gene to the body
and the other makes changes to a gene that is already in
the body.
2. Hemophilia

 Hemophilia is usually an inherited bleeding disorder in

which the blood does not clot properly. This can lead to
spontaneous bleeding as well as bleeding following
injuries or surgery.

 In this disease, a single protein that is a part of the

cascade of proteins involved in the clotting of blood is
affected.

 This sex linked recessive disease, which shows its

transmission from unaffected carrier female to some of the
male progeny has been widely studied.

 The possibility of a female becoming a haemophilic is

extremely rare because mother of such a female has to be
at least carrier and the father should be haemophilic
(unviable in the later stage of life).

 Hemophilia can result in:

 (a)Bleeding within joints that can lead to chronic joint

disease. (b)Bleeding in the head and sometimes in the
brain which can cause long term problems, such as
seizures and paralysis. (c)Death can occur if the bleeding
cannot be stopped or if it occurs in a vital organ such as
the brain.
3. Thalassemia

 Thalassemia is an inherited blood disorder caused when

the body doesn’t make enough of a protein called
hemoglobin, an important part of red blood cells.

 The defect could be due to either mutation or deletion

which ultimately results in reduced rate of synthesis of
one of the globin chains (α and β chains) that make up
haemoglobin.

 This is also an autosome-linked recessive blood disease.

 A person who has thalassemia trait may not have any

symptoms at all or may have only mild anemia, while a
person with thalassemia major may have severe symptoms
and may need regular blood transfusions.

Symptoms:-

 Bone deformities in the face

 Fatigue
 Growth failure
 Shortness of breath
 Yellow skin (jaundice)
4. Phenylketonuria

 This inborn error of metabolism is also inherited as the

autosomal recessive trait.

 Phenylketonuria ( PKU) is an inherited disorder that

increases the levels of a substance called phenylalanine
in the blood.

 The affected individual lacks an enzyme that converts the

amino acid phenylalanine into tyrosine. As a result of this
phenylalanine is accumulated and converted into
phenylpyruvic acid and other derivatives.

 Accumulation of these in brain results in mental

retardation. These are also excreted through urine because
of its poor absorption by kidney.

 The most severe form of this disorder is known as classic

PKU. Infants with classic PKU appear normal until they
are a few months old. Without treatment, these children
develop permanent intellectual disability.

 Seizures, delayed development, behavioral problems, and

psychiatric disorders are also common.
Chromosomal Disorders

 Chromosomes are thread-like structure present in the

nucleus that carries hereditary information in the form of
genes which is passed from parents to offspring.

 Chromosomal disorders are due to the change in the

number of chromosomes present.

(1)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.

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

(b)Monosomy: The cell has one chromosome less (2n-

1)

(2)Euploidy: Loss or gain of the whole set of chromosome.

Mostly occurs in plants.

 Haploid: Loss of one set of the chromosomes , that is ‘n’

number of chromosomes

(3) Polyploid: Addition of one or more set of chromosomes,

e.g. ‘3n (triploid)’, ‘6n ( hexaploid )’ etc.
[Link]’s Syndrome .

 The cause of this genetic disorder is the

presence of an additional copy of the chromosome
number 21 ( trisomy of 21).

 This disorder was first described by Langdon Down (1866).

 The affected individual is short statured with small round

head, furrowed tongue and partially open mouth Palm is
broad with characteristic palm crease. Physical ,
psychomotor and mental development is retarded.

 Down syndrome can affect anyone. It’s a genetic condition,

and it doesn’t happen as a result of something that the
parents did before or during pregnancy.

 Diagnostic tests during pregnancy can confirm a Down

syndrome diagnosis. They usually take place after a
positive screening test. Some tests are -

(I) Amniocentesis.
(II) Chorionic villus sampling (CVS).
(III) Percutaneous umbilical blood sampling (PUBS).
[Link]’s Syndrome.

 This genetic disorder is also caused due to the presence of

an additional copy of X- chromosome resulting into a
karyotype of 47, XXY.

 Such an individual has overall masculine

development,however, the feminine development
(development of breast) is also expressed. Such
individuals are sterile.

 In some cases, the features are so mild that the condition

is not diagnosed until puberty or adulthood. Researchers
believe that up to 65 percent of people with Klinefelter
syndrome are never diagnosed.

 Individuals with Klinefelter syndrome typically have small

testes that produce a reduced amount of testosterone. A
small percentage of affected individuals are born with
undescended testes (cryptorchidism).

 People with Klinefelter syndrome have an increased risk of

developing metabolic syndrome, which is a group of
conditions that include high blood glucose levels during
prolonged periods without food, high blood pressure etc.
[Link]’s Syndrome.

 Such a disorder is caused due to the absence of one of the

X chromosomes, 45 with X0, Such females are sterile as
ovaries are rudimentary besides other features including
lack of other secondary sexual characters.

 The most common feature of Turner syndrome is short

stature, which becomes evident by about age 5. Reduced
functioning of the ovaries, the female reproductive organs
that produce egg cells (oocytes) and female sex hormones,
is also very common.

 Many affected individuals do not undergo puberty unless

they receive hormone therapy, and most are unable to
become pregnant naturally.

 A small percentage of people with Turner syndrome retain

normal ovarian function through young adulthood.

 Most cases of Turner syndrome are not inherited. When

this condition is caused by monosomy X, the chromosomal
abnormality occurs as a random event during the
formation of reproductive cells (eggs and sperm) in the
affected person's parent.
 Conclusion

In conclusion, gene mutation is general cause genetic

changes which can lead to disease. The three type of gene
mutation:- Substitution, which can 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
gene . All this type of mutation cause same effect in
produce protein. This effect is loss of stability and
expression on protein. Mutation cause many disease such
as infertility, muscular atrophy ,sickle - cell Anemia, breast
cancer and gastric cancer.
 Resources
● National Library of Medicine.

● National Centre For Biotechnology Information.

● Centers For Disease Control and Prevention.

● World Health Organization.

● Wikipedia.

● National Council of Educational Research and

Training.

● National Human Genome Research Institute.