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Prevalence of cystic fibrosis mutations in the East German population

✍ Scribed by Charles Coutelle; Roland Brückner; Klaus Grade; Frauke Behrens; Jürgen Gedschold; Jutta Hein; Reinhard Szibor; Ingrid Bauer; Joseph Brock; Ina Graupner; Udo Urner; Barbara Leucht

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
381 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis

A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected, the delta F508 mutation in exon 10 of the CFTR gene is the major gene alteration causing CF in our patients. However, in comparison to studies from Western Germany, a significantly lower percentage of just over 60% is found in our patients, resembling data obtained from slavonic populations. The severe phenotype of cystic fibrosis is most frequently associated with homozygosity for the delta F508 mutation. No particular allele association could be found with the intermediate and mild phenotypes of this disease. The next most frequent of the investigated mutations is R553X (13.3% of non-delta F chromosomes) followed by R347P (9.2%) and G542X (4.4%).

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