Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.

ABSTRACT:

Background

Cystic fibrosis (CF) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is also the most frequently inherited disorder in the West. The aim of this study was to detect the mutations in the CFTR gene in two Iranian families with CF.

Methods

After DNA extraction using the salting out method, a mutation panel consisting of 35 common mutations was tested by PCR, followed by reverse hybridization Strip Assay. To confirm the mutations, we have also performed Sanger sequencing for all 27 exons, intronic flanking regions, and 5' and 3' UTRs of the CFTR gene.

Results

Carrier testing in a spouse revealed a novel nonsense mutation in the CFTR ge

SUBMITTER: Mohseni M 

PROVIDER: S-EPMC4983674 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature