LIFE SCIENCE

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OBJECTIVE LIFE SCIENCE

MOLECULAR BIOLOGY

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
The most commonly occurring mutation in people with cystic fibrosis is a deletion of a single codon. This results in
A
a polypeptide missing an amino acid.
B
a base-pair substitution.
C
a frameshift mutation.
D
a nucleotide mismatch.
Explanation: 

Detailed explanation-1: -The most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein. Without this building block, the CFTR protein cannot stay in the correct 3-D shape.

Detailed explanation-2: -The most common disease-causing mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is the out-of-frame deletion of 3 nucleotides (CTT). This mutation leads to the loss of phenylalanine-508 (F508) and a silent codon change (SCC) for isoleucine-507 (I507-ATC→ATT).

Detailed explanation-3: -Cystic fibrosis The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR protein. The resulting abnormal channel breaks down shortly after it is made, so it never reaches the cell membrane to transport chloride ions.

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