Detection of CFTR gene mutations in patients suffering from chronic bronchitis

Background. The purpose of the study was to examine cystic fibrosis transme mbrane conductance regulator (CFTR) gene mutations in patients suffering fr om chronic bronchitis. Methods. Thirty-two patients admitted to the Department of Pulmonology, Lub lin School of Medicine, Lublin, Poland between 1995 and 1996 due to chronic bronchitis were included in the study. Patients were analyzed for the eigh t most common mutations of the CFTR gene (Delta F508, G542X, N1303K, 1717-1 (GoA)), W1282X, G551D, R553X, and Delta I507 by the reverse-hybridization m ethod. Results. CFTR gene mutations were found in five of 32 (16%) patients, all w ithin the Delta F508 region of the CFTR gene. All positive samples were obt ained from patients her erozygous for the Delta F508 mutation. The presence of the Delta F508 mutation was considered statistically significant when o ur study group was compared to the study of Poland's general population (p < 0.05 Fisher's exact test). Conclusions. Our results suggest there is an increased presence of the Delt a F508 point mutation of the CFTR gene in Polish patients suffering from ch ronic bronchitis. (C) 2000 IMSS. Published by Elsevier Science Inc.