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


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


CONCLUSIONS
These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.
Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran.
Mohammad-Reza Esmaeili
MR
Dooki
Haleh
H
Akhavan-Niaki
Ali Ghabeli
AG
Juibary