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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 21, No. 1, 2011, pp. 51-57
Bioline Code: pe11009
Full paper language: English
Document type: Research Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 21, No. 1, 2011, pp. 51-57

 en Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis; First Report from Northern Iran
Dooki, Mohammad-Reza Esmaeili; Akhavan-Niaki, Haleh & Juibary, Ali Ghabeli


Objective: Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common 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 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.

Cystic Fibrosis ; CFTR ; Genotype ; DeltaF508-CFTR ; Children ; Iran

© Copyright 2010 Iran Journal of Pediatrics.
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