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Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany.

作者信息

Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E

机构信息

Klinik für Pädiatrie, Medizinische Universität zu Lübeck, Germany.

出版信息

Hum Genet. 1995 Feb;95(2):226-8. doi: 10.1007/BF00209408.

Abstract

The frequency of six common mutations in the cystic fibrosis transmembrane conductance regulator gene was studied in 100 patients hospitalized with chronic bronchitis. Only one patient with chronic bronchitis and diffuse bronchiectasis was heterozygous for the common delta F508 mutation. R553X, G542X, G551D, N1303K and 621 + 1G-->T were not detected. This result is not significantly different from the frequency of cystic fibrosis carriers in Northern Europe. Predisposition of heterozygotes for chronic bronchitis is therefore unlikely.

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