Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran

Overview

Journal Iran J Pediatr

Publisher Brieflands

Specialty Pediatrics

Date 2012 Oct 12

PMID 23056764

Citations 5

Authors

Mohammad-Reza Esmaeili Dooki

Haleh Akhavan-Niaki

Ali Ghabeli Juibary

Affiliations

Soon will be listed here.

Abstract

Objective: Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common cystic fibrosis transmembrane conductance regulator (CFTR) mutations were reported from Iran, but the northern population was not or underrepresented in those studies. The aim of this study was to determine the frequency of common CFTR mutations in children from northern Iran.

Methods: Thirty unrelated Iranian cystic fibrosis patients aged less than 11 years and living in Mazandaran province (in Iran) were screened for 5 common CFTR gene mutations. deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method.

Findings: Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% (13/60) of alleles.

Conclusion: These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.

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