MRCP UK EXAMINATIONS

RESPIRATORY

FIBROTIC LUNG DISEASE

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
On which chromosome is the cftr gene located?
A
chromosome 6
B
chromosome 7
C
chromosome 8
D
chromosome 5
Explanation: 

Detailed explanation-1: -Chromosome microarray analysis revealed a homozygous deletion of the CFTR gene on chromosome 7 (7q31. 2) within a maternally derived 12.8-Mb region of loss of heterozygosity with deletion of a region that includes the CFTR gene.

Detailed explanation-2: -Cystic fibrosis is caused by mutations in a gene on chromosome 7 encoding the protein subsequently termed the CFTR gene. More than 1800 mutations have been reported to the Cystic Fibrosis Genetic Analysis Consortium. Most of these mutations are rare, and only four mutations occur in a frequency of more than 1%.

Detailed explanation-3: -The gene that causes problems in CF is found on the seventh chromosome. There are many mutations (abnormal genes) that have been shown to cause CF disease. Over 1000 mutations have been discovered, but there are about 30 that are common. The most common gene mutation is called deltaF508.

There is 1 question to complete.