Detection of CFTR gene mutations in patients suffering from chronic bronchitis

Arch Med Res. Jan-Feb 2000;31(1):97-100. doi: 10.1016/s0188-4409(99)00065-x.

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 (DeltaF508, G542X, N1303K, 1717-1(GoA)), W1282X, G551D, R553X, and DeltaI507 by the reverse-hybridization method.

Results: CFTR gene mutations were found in five of 32 (16%) patients, all within the DeltaF508 region of the CFTR gene. All positive samples were obtained from patients heterozygous for the DeltaF508 mutation. The presence of the DeltaF508 mutation was considered statistically significant when our study group was compared to the study of Poland's general population (p <0.05 Fisher's exact test).

Conclusion: Our results suggest there is an increased presence of the DeltaF508 point mutation of the CFTR gene in Polish patients suffering from chronic bronchitis.

MeSH terms

  • Adolescent
  • Adult
  • Bronchitis / genetics*
  • Chronic Disease
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator