Tay-Sachs disease is caused by mutations in the HEXA gene and inheritance is autosomal recessive . The HEXA gene gives the body instructions to make part of the beta-hexosaminidase A enzyme, which is needed to break down a substance called GM2 ganglioside.
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Answer:
B) missense mutation
Explanation:
A type of base substitution that results in the replacement of one amino acid by another is called missense mutation. Missense mutations affect the mutated proteins in several ways. It may alter the amino acid composition of the active site of enzymes and render the enzymes inactive.
The wild type polypeptide chain has the following sequence of amino acids: Met-Ala-Gln-Arg-Glu-Leu. The mutated polypeptide has glycine in place of arginine. The rest of the amino acids are the same in wild type and mutated protein. This means that the mutation changed the genetic code of arginine into the genetic code of glycine resulting in the incorporation of glycine in position 4. This is an example of a missense mutation.
Answer:
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