MRCP UK EXAMINATIONS

RESPIRATORY

CYSTIC FIBROSIS

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Which of the following is mutated in CF?
A
DNA
B
RNA
C
Lipids
D
Carbohydrates
Explanation: 

Detailed explanation-1: -Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. In people with CF, mutations in the CFTR gene can disrupt the normal production or functioning of the CFTR protein found in the cells of the lungs and other parts of the body.

Detailed explanation-2: -Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) anion channel. The most common CF-associated mutation is F508, which deletes a phenylalanine in position 508.

Detailed explanation-3: -The cystic fibrosis gene, located at 7q31, spans about 230 kb of genomic DNA and contains 27 exons.

There is 1 question to complete.