Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran

Mehdizadeh Hakkak, Atieh and Keramatipour, Mohammad and Talebi, Saeid and Brook, Azam and Tavakol Afshari, Jalil and Raazi, Amin and Kianifar, Hamid Reza (2013) Analysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran. Iranian Journal of Basic Medical Sciences, 16 (8). pp. 917-921.

IJBMS_Volume 16_Issue 8_Pages 917-921.pdf

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Objective(s): More than 1500 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 56 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 R344W and R347P, and PCR-Sequencing was performed for exon 11 in patients with unidentified mutation throughout previous steps. Samples which remained still unknown for a CFTR mutation were sequenced for exon 12. Results: Among 112 alleles, 24 mutated alleles (21.42) were detected: ΔF508 (10.71), 1677delTA (3.57), S466X (3.57), N1303K (0.89), G542X (0.89), R344W (0.89), L467F (0.89). Eight out of 56 individuals analyzed, were confirmed as homozygous and eight samples showed heterozygous status. No mutations were detected in exon 12 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.

Item Type: Article
Subjects: QT physiology
Divisions: Journals > Iranian J Basic Medical Sciences
Depositing User: ijbms ijbms
Date Deposited: 10 Oct 2017 15:33
Last Modified: 10 Oct 2017 15:33

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