MCQs on Human Genetic Disorders part 2 | BSc Genetics Paper II - MSc Entrance Exams

In this video we will discuss part 2 of MCQs about Human Genetic Disorders and Diseases.A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.

Some examples of single-gene disorders include
cystic fibrosis,
alpha- and beta-thalassemias,
sickle cell anemia (sickle cell disease),
Marfan syndrome,
fragile X syndrome,
Huntington's disease, and
hemochromatosis.

Chromosomal abnormalities typically occur due to a problem with cell division.

For example, Down syndrome (sometimes referred to as "Down's syndrome") or trisomy 21 is a common genetic disorder that occurs when a person has three copies of chromosome 21.
There are many other chromosomal abnormalities including:
Turner syndrome (45,X0),
Klinefelter syndrome (47, XXY), and
Cri du chat syndrome, or the "cry of the cat" syndrome (46, XX or XY, 5p-).

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