PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Tay Sachs disease is a fatal genetic disorder. Children born with this disorder generally die before they are five years old. A couple has had three children who died of Tay Sachs. About this couple it can safely be assumed that:
A
any children they have in the future will also die from this disease
B
they are both heterozygous for the Tay Sachs trait
C
they are both homozygous for the Tay Sachs trait
D
one is heterozygous and the other is homozygous for the Tay Sachs trait
Explanation: 

Detailed explanation-1: -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-2: -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.

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