Atieh Mehdizadeh Hakkak - ۱Clinic of Cystic Fibrosis, Mashhad University of Medical Sciences, Mashhad, Iran
Mohammad Keramatipour - Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
Saeid Talebi - Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
Azam Brook - Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran
Jalil Tavakol Afshari - Bu-Ali Research Institute, Department of Immunogenetic & Tissue Cultlure, Mashhad University of Medical Sciences, Mashhad, Iran
Amin Raazi - Clinic of Cystic Fibrosis, Mashhad University of Medical Sciences, Mashhad, Iran
Hamid Reza Kianifar - Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran

 Objective(s):  More than ۱۵۰۰ registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and Methods: A total number of ۵۶ documented CF patients participated in this study. Peripheral blood was obtained and DNA extraction was done by the use of routin methods. Three steps were taken for determining the target mutations: ARMS-PCR was performed for common CFTR mutations based on previous reports in Iran and neighboring countries. PCR-RFLP was done for detection of R۳۴۴W and R۳۴۷P, and PCR-Sequencing was performed for exon ۱۱ in patients with unidentified mutation throughout previous steps. Samples which remained still unknown for a CFTR mutation were sequenced for exon ۱۲.   Results: Among ۱۱۲ alleles, ۲۴ mutated alleles (۲۱.۴۲%) were detected: ΔF۵۰۸ (۱۰.۷۱%), ۱۶۷۷delTA (۳.۵۷%), S۴۶۶X (۳.۵۷%), N۱۳۰۳K (۰.۸۹%), G۵۴۲X (۰.۸۹%), R۳۴۴W (۰.۸۹%), L۴۶۷F (۰.۸۹%). Eight out of ۵۶ individuals analyzed, were confirmed as homozygous and eight samples showed heterozygous status. No mutations were detected in exon ۱۲ of sequenced samples. Conclusion:Current findings suggest a selected package of CFTR mutations for prenatal, neonatal and carrier screening along with diagnosis and genetic counseling programs in CF patients of Khorasan.

CFTR Cystic Fibrosis Mutation Sequencing PCR