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The Frequency of CFTR Gene Mutations in Patients Suffering From Chronic Bronchitis FREE TO VIEW

Marzena Kostuch; Jan Oleszczuk; Lucas Kulczycki
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University Medical School, Lublin, Poland


Chest. 2003;124(4_MeetingAbstracts):136S. doi:10.1378/chest.124.4_MeetingAbstracts.136S
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PURPOSE:  The purpose of the study was to detect CFTR gene mutations in patients suffering from chronic bronchitis.

METHODS:  Forty one patients admitted to the Department of Pulmonology, University Medical School of Lublin, Poland due to chronic bronchitis were included in the study. Patients were analyzed for the eight most common mutations of the CFTR gene: delta F508, G542X, N1303K, 1717-1(G->A), W1282X, G551D, R553X and delta I507 using the reverse-hybridization method.

RESULTS:  In a group of 41 adults with chronic infections of respiratory system, among whom 9 also had bronchiectasis, 6 patients (14.6%) heterozygous for the delta F508 mutation were identified. This frequency is much higher than the general frequency of occurence of this mutation within the Polish population (2.24%-2.8%)This result is statistically significant (p<0.05, Fisher’s exact test)CONCLUSIONS: Our results suggest an increased presence of delta F508 mutation within the CFTR gene in Polish patients suffering from chronic bronchitis. However, further studies are warranted to investigate the role of other uncommon CFTR gene mutations in patients with chronic bronchitis and bronchiectasis.

DISCLOSURE:  M. Kostuch, None.

Wednesday, October 29, 2003

12:30 PM- 2:00 PM




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