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

作者：Dooki Mohammad Reza Esmaeili; Akhavan Niaki Haleh^*; Juibary Ali Ghabeli

来源：Iranian Journal of Pediatrics, 2011, 21(1): 51-57.

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

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.

• 出版日期2011-3