بررسی اگزونهای 4،7،10،11،13،20و21 و ژن CFTR بوسیله روشهای ARMS-PCR، SSCP و Sequencing در بیماران سیستیک فایبروزیس ایرانی

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene and characteristically leads to prominent Lung and pancreatic malfunctions. A total of seventy two unrelated Iranian CF families were screened for the presence of mutations occurring in exons 4,7,10,11,13,20,21 and flanking intronic sequences. For mutation detection, PCR-SSCP analysis and sequencing were used.Keyword: cystic fibrosis; CFTR; SSCP; Sequencing

Keywords:

cystic fibrosis , CFTR , SSCP , Sequencing