PATHOLOGY

PATHOLOGY MCQ

GENETICS AND DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Tay-Sachs is a lethal, autosomal recessive disorder. If both parents are heterozygous carriers, what are the chances of them having a child who is also a heterozygous carrier?
A
25%
B
50%
C
75%
D
100%
Explanation: 

Detailed explanation-1: -The risk for two carrier parents to both pass the altered gene and have an affected child is 25% with each pregnancy.

Detailed explanation-2: -Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy. The affected child would have received a mutated copy of the gene from each parent.

Detailed explanation-3: -Thus, parents of an affected child with Tay-Sach disease are obligate heterozygote carriers. Thus, two carriers (father and mother) have a 25% chance that the offspring is affected and a 25% chance that their offspring is healthy, while half of their offspring (50%) may be carriers exactly like the parents.

Detailed explanation-4: -1 in 4 (25%) chance the child inherits a faulty gene from both parents and develops Tay-Sachs disease.

Detailed explanation-5: -If you are born to parents who both carry the same autosomal recessive gene, you have a 25% (1 in 4) chance of inheriting the abnormal gene from both parents and developing the disease. You have a 50% (1 in 2) chance of inheriting one abnormal gene.

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