CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

ABSTRACT:

Background

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in Caucasian population. The incidence of disorder varies among different religious, ethnic and geographical isolates. The aim of this study was to identify the spectrum and the frequency of known and unknown disease-causing mutations in Iranian CF patients.

Methods

Genomic DNA was extracted from peripheral whole blood with a QIAamp DNA Mini-Kit. Mutation analysis was done in the CFTR gene including complete coding region and intron/exon boundaries using a direct sequencing method.

Results

In general, ten mutations were identified in 27 CF cases. Two out of 10 mutations, 754delT and GGTGGCdel/TTGins, were reported as novel mutations. The most common observed mutations in pat

SUBMITTER: Karimi N 

PROVIDER: S-EPMC5960049 | biostudies-literature | 2018 Jan-Mar

REPOSITORIES: biostudies-literature