Detection of CFTR Gene Mutations in Patients Suffering from Chronic Bronchitis

Abstract Background The purpose of the study was to examine cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in patients suffering from chronic bronchitis. Methods Thirty-two patients admitted to the Department of Pulmonology, Lublin School of Medicine, Lublin, Poland between 1995 and 1996 due to chronic bronchitis were included in the study. Patients were analyzed for the eight most common mutations of the CFTR gene (ΔF508, G542X, N1303K, 1717-1(GoA)), W1282X, G551D, R553X, and ΔI507 by the reverse-hybridization method. Results CFTR gene mutations were found in five of 32 (16%) patients, all within the ΔF508 region of the CFTR gene. All positive samples were obtained from patients heterozygous for the ΔF508 mutation. The presence of the ΔF508 mutation was considered statistically significant when our study group was compared to the study of Poland's general population ( p Conclusions Our results suggest there is an increased presence of the ΔF508 point mutation of the CFTR gene in Polish patients suffering from chronic bronchitis.