PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
A human genetic disease caused by a recessive allele that leads to the accumulation of certain lipids in the brain. Seizures, blindness, and degeneration of motor and mental performance usually become manifest a few months after birth.
A
Fragile X
B
Cystic fibrosis
C
color blindness
D
Tay-Sachs disease
Explanation: 

Detailed explanation-1: -Tay-Sachs disease is a rare, neurodegenerative disorder in which deficiency of an enzyme (hexosaminidase A) results in excessive accumulation of certain fats (lipids) known as gangliosides in the brain and nerve cells.

Detailed explanation-2: -Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.

Detailed explanation-3: -Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by the death of nerve cells (neurons ) in the brain and spinal cord (central nervous system).

Detailed explanation-4: -It is caused by a mutation in the enzyme hexosaminidase A, which allows the harmful buildup of lipids (fatty materials such as oils and acids) in cells. Both parents must carry the mutated gene in order to have a child with Tay-Sachs disease.

Detailed explanation-5: -Tay-Sachs is an autosomal recessive disease caused by mutations in both alleles of a gene (HEXA) on chromosome 15. HEXA codes for the alpha subunit of the enzyme -hexosaminidase A. This enzyme is found in lysosomes, organelles that break down large molecules for recycling by the cell.

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