The heterozygosity of the cystic fibrosis gene on ΔF508 mutation in patients with chronic obstructive pulmonary pathology
Abstract
The purpose of this study was investigation of the prevalence of ΔF508 mutation of the cystic fibrosis gene in patients with COPD. 66 patients with COPD, 35 ones with nonobstructive pulmonary diseases and 35 healthy volunteers were examined aged of 17—76 years.
DNK of the subjects were analysed to reveal mutations ΔF508 and G542Х, S549N, G551D, R553Х, and W1282 additionally. The obtained results show the presence of ΔF508 mutation in 4 patients of COPD group, that is 6% of the number of the latter. The frequency of mutations in the nonobstructive diseases group was less then 1:35 (1:70 for the total number of chromosomes), that is in account with literature data. The present data correspond to the hypothesis about the heterozygosity on pathogenic mutation of cystic fibrosis plays the certain role in COPD pathogenesis.
About the Authors
E. I. Samilchuk
Институт пульмонологии МЗ РФ
Russian Federation
Russian Federation
A. G. Chuchalin
Институт пульмонологии МЗ РФ
Russian Federation
Russian Federation
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Review
For citations:
Samilchuk E.I., Chuchalin A.G. The heterozygosity of the cystic fibrosis gene on ΔF508 mutation in patients with chronic obstructive pulmonary pathology. PULMONOLOGIYA. 1994;(3):47-50. (In Russ.)
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