ASSIGNMENT NO:3

NAME: SAYMEEN RAFIQUE

ROLL NO: 2023S-BBMS-010

Q NO:1 Interpet the disorders of dna dur to mutation

Mutations in DNA can lead to various disorders and diseases by altering the
genetic code. These changes can disrupt normal biological functions and lead to
several types of genetic disorders. Here's a detailed interpretation of the different
ways mutations can cause disorders:

1. Single Gene Disorders

These are caused by mutations in a single gene and can follow Mendelian
inheritance patterns (autosomal dominant, autosomal recessive, X-linked).

 Cystic Fibrosis: Caused by mutations in the CFTR gene, leading to thick

mucus in the lungs and digestive system.
 Sickle Cell Anemia: Resulting from a single nucleotide mutation in the
HBB gene, which alters hemoglobin structure.
 Huntington’s Disease: An autosomal dominant disorder caused by a repeat
expansion mutation in the HTT gene, leading to neurodegeneration.

2. Chromosomal Disorders

These involve changes in the structure or number of entire chromosomes.

 Down Syndrome (Trisomy 21): Caused by an extra copy of chromosome

21, leading to developmental delays and physical abnormalities.
 Turner Syndrome: A condition where females have only one X
chromosome (45,X), resulting in short stature and infertility.
 Klinefelter Syndrome: Males with an extra X chromosome (47,XXY) can
have learning disabilities and reduced testosterone levels.

3. Multifactorial Disorders

These disorders result from mutations in multiple genes, often coupled with
environmental factors.
  Heart Disease: Involves multiple genetic factors along with lifestyle
influences.
 Diabetes: Type 1 and Type 2 diabetes have genetic predispositions but are
also significantly influenced by environmental factors.
 Cancer: Various forms of cancer are linked to mutations in multiple genes
(e.g., BRCA1/BRCA2 in breast cancer) and are influenced by lifestyle and
environmental factors.

4. Mitochondrial Disorders

Mutations in the mitochondrial DNA (mtDNA), which is inherited maternally, can

lead to disorders affecting energy production.

 Leber's Hereditary Optic Neuropathy (LHON): Causes vision loss due to

mutations in mtDNA.
 Mitochondrial Myopathy: Affects muscle function, leading to weakness
and exercise intolerance.

Mechanisms by Which Mutations Cause Disorders

1. Loss of Function Mutations

These mutations result in the reduction or elimination of the protein's function. For
instance:

 Null Mutations: Completely inactivate a gene, as seen in cystic fibrosis.

 Hypomorphic Mutations: Partially reduce the function of the protein,
leading to diseases like hemophilia.

2. Gain of Function Mutations

These mutations lead to a new or enhanced activity of a protein. Examples include:

 Oncogenes in Cancer: Mutations lead to uncontrolled cell growth.

 Huntington’s Disease: The mutated protein gains a new, toxic function.

3. Dominant Negative Mutations

These mutations produce a protein that interferes with the function of the normal
protein, which can be seen in some forms of osteogenesis imperfecta.
4. Nonsense Mutations

These result in a premature stop codon, leading to truncated, nonfunctional

proteins. Diseases like Duchenne muscular dystrophy are examples.

5. Missense Mutations

A single nucleotide change results in a different amino acid, potentially altering the
protein function, as seen in sickle cell anemia.

6. Frameshift Mutations

Insertions or deletions of nucleotides change the reading frame, drastically altering

the protein. Tay-Sachs disease can result from such mutations.

7. Splice Site Mutations

These affect the splicing of pre-mRNA, leading to abnormal mRNA and

nonfunctional proteins. An example is beta-thalassemia.

Understanding the specific mutation types and their impacts on genes and proteins
is crucial for diagnosing and developing treatments for these genetic disorders.
Genetic counseling and testing can also help manage and prevent the transmission
of some of these disorders.