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Common CFTR mutations are not likely to predispose to chronic bronchitis in Northern Germany
Authors:Andreas Artlich  Arnulf Boysen  Susanna Bunge  Peter Entzian  Max Schlaak  Eberhard Schwinger
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
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 DeltaF508 mutation. R553X, G542X, G551D, N1303K and 621+1GrarrT 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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