Genetic Disorders

What is a Chromosomal aberration? Describe different types of chromosomal aberrations.

Leave a Comment / Human Genetics (MANE-001) /

Introduction Chromosomal aberrations refer to changes in the normal structure or number of chromosomes. These changes can lead to genetic disorders, developmental abnormalities, or even cancer. Chromosomal aberrations may occur due to errors during cell division, exposure to radiation, or chemical mutagens. Definition A chromosomal aberration is any change in the number or structure of […]

What is a Chromosomal aberration? Describe different types of chromosomal aberrations. Read More »

What is familial hypercholesterolemia? Discuss its molecular basis, symptoms and treatments.

Leave a Comment / BBCET-145 /

Introduction Familial Hypercholesterolemia (FH) is an inherited disorder characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C), commonly known as “bad cholesterol,” in the blood. It significantly increases the risk of early-onset cardiovascular diseases such as heart attack and stroke. FH is one of the most common genetic lipid disorders and can be passed

What is familial hypercholesterolemia? Discuss its molecular basis, symptoms and treatments. Read More »

Describe briefly the signs and symptoms of SCID

Leave a Comment / BBCCT-113 – Metabolism of Amino Acids and Nucleotides /

Describe Briefly the Signs and Symptoms of SCID Severe Combined Immunodeficiency (SCID) is a group of rare genetic disorders characterized by profound defects in both humoral (B-cell) and cellular (T-cell) immunity. It is often termed as “bubble boy disease” due to the extreme measures required to protect affected individuals from infections. Causes Mutations in genes

Describe briefly the signs and symptoms of SCID Read More »

Disabled !