چكيده لاتين :
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: ؤF508, N1303K, G542X, 1717-1G>A, R553X, W1282X, G551D, 621+1G>T,
ؤI507 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: ؤF508 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.
