Related Experiment Video
Updated: Jul 26, 2026

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
Published on: May 10, 2014
Detection of CFTR gene mutations in patients suffering from chronic bronchitis
M Kostuch1, A Semczuk, W Szarewicz-Adamczyk
1Department of Human Genetics, Lublin School of Medicine, Lublin, Poland. tomek@asklepios.am.lublin.pl
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.
More Related Videos
07:04Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
08:00Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
Published on: April 11, 2018
Related Concept Videos
Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cystic Fibrosis: Management
Sinus disease and chronic sinusitis...
Chronic Obstructive Pulmonary Disease-I: Introduction
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies
Medical History
Chronic Obstructive Pulmonary Disease I: Introduction
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features