부산대학교 도서관

A point mutation in intron 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene appears to be a genetic marker for cystic fibrosis in patients with lung conditions associated with the disease but whose sweat chloride concentrations are normal. Chronic lung disease similar to that seen in cystic fibrosis patients has been identified in some people whose sweat chloride concentrations, a diagnostic marker for cystic fibrosis, are normal. A genetic marker would make it possible to diagnose the patients as having a cystic fibrosis-type syndrome despite normal chloride concentrations. Sequencing of polymerase chain reaction-amplified nasal epithelial messenger RNA revealed a point mutation in intron 9 of CFTR in 13 of 23 patients with cystic fibrosis-like lung disease and normal sweat chlorine concentrations.