Pulmonary

Question 1

CFTR gene and it’s mutations are found on

Answer 1

Chr 7q31.2

> 1300 different mutations

Question 2

Severity of CF

Answer 2

Divided into 6 main categories
I channel absence
II channel abnormal folding/ processing / trafficking
III channel present , not functioning
IV channel present, reduced function
V channel present in small amounts , normal function
VI abnormal regulation of OTHER channels by CFTR