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Multiple Choice
Which type of mutation is responsible for causing Tay-Sachs disease?
A
Insertion (frameshift) mutation in the HEXA gene
B
Silent (synonymous) mutation that does not change the amino acid sequence
C
Balanced chromosomal translocation with no net gain or loss of genetic material
D
Point mutation in a promoter that increases HEXA expression
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Verified step by step guidance
1
Step 1: Understand the nature of Tay-Sachs disease, which is a genetic disorder caused by mutations affecting the HEXA gene responsible for producing the enzyme hexosaminidase A.
Step 2: Review the types of mutations listed: insertion (frameshift), silent (synonymous), balanced chromosomal translocation, and point mutation in a promoter region.
Step 3: Recall that silent mutations do not change the amino acid sequence and typically do not cause disease, so this is unlikely to be responsible for Tay-Sachs.
Step 4: Consider that balanced chromosomal translocations usually do not result in loss or gain of genetic material and often do not cause enzyme deficiencies like in Tay-Sachs.
Step 5: Recognize that insertion (frameshift) mutations in the HEXA gene disrupt the reading frame, leading to a nonfunctional enzyme, which is the known cause of Tay-Sachs disease.