Mutation Analysis of CFTR Gene in 70 Iranian Cystic Fibrosis Patients

Cystic fibrosis (cf) is the most common inherited disorder in caucasian populations,with over 1400 cystic fibrosis transmembrane conductance regulator (cftr) mutations. thetype of mutations and their distributions varies widely between different countries and/orethnic groups. seventy iranian cystic fibrosis patients were screened for the cftr genemutation using arms/pcr (amplification refractory mutation system) for the followingmutations: 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 performedin patients in whom no mutation could be identified on one or both cftr genes. as a resultof 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 3mutations cover 25.7% of cf alleles. these finding will be used for planning future screeningand appropriate genetic counseling programs in iranian cf patients.