Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients

ABSTRACT

Cystic fibrosis [CF] is the most common inherited disorder in Caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator [CFTR] mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. Seventy Iranian cystic fibrosis patients were screened for the CFTR gene mutation using ARMS/PCR [amplification refractory mutation system] for the following mutations delta F508, N1303K, G542X, 1717-1G>A, R553X, W1282X, G551D, 621+1G>T, delta I 507 and R560T. Single strand conformation polymorphism [SSCP] analysis of exons 3, 7, 10, 11 and 17b, including both the exon/intron junctions, of the CFTR gene was performed in patients in whom no mutation could be identified on one or both CFTR genes. As a result of this screening, only three mutations were found delta F508 mutation was found in 25 [17.8%] alleles, N1303K in six [4.3%] alleles and G542X in five [3.6%] alleles. Thus, a total of 3 mutations cover 25.7% of CF alleles. These finding will be used for planning future screening and appropriate genetic counseling programs in Iranian CF patients