Common CFTR mutations are not likely to predispose to chronic bronchitis in Northern Germany |
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Authors: | Andreas Artlich Arnulf Boysen Susanna Bunge Peter Entzian Max Schlaak Eberhard Schwinger |
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Affiliation: | (1) Klinik für Pädiatrie, Medizinische Universität zu Lübeck, Kahlhorststraße 31-35, D-23538 Lübeck, Germany;(2) Institut für Humangenetik, Medizinische Universität zu Lübeck, Lübeck, Germany;(3) Medizinische Klinik des Forschungsinstituts Borstel, Borstel, Germany |
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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 F508 mutation. R553X, G542X, G551D, N1303K and 621+1GT 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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