AP BIOLOGY

HEREDITY

MUTATIONS

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Tay-Sachs is caused by a mutation in the ____ gene.
A
GENE
B
HEXA
C
HEXAGON
D
TASA
Explanation: 

Detailed explanation-1: -Tay-Sachs disease is a genetic disorder that is passed from parents to their children. It occurs when a child inherits a flaw (mutation) in the HEXA gene from both parents. The genetic change that causes Tay-Sachs disease results in a deficiency of the enzyme beta-hexosaminidase A.

Detailed explanation-2: -The most common mutation, which occurs in over 80 percent of Tay–Sachs patients, results from a four base pair addition (TATC) in exon 11 of the Hex A gene. This insertion leads to an early stop codon, which causes the Hex A deficiency.

Detailed explanation-3: -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.

Detailed explanation-4: -Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the defective Tay-Sachs gene, a child has a 25% chance of developing the disease. The child must receive two copies of the defective gene, one from each parent, in order to become sick.

Detailed explanation-5: -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.

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