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Prevalence of cystic fibrosis mutations in the East German population
Author(s) -
Coutelle Charles,
Brückner Roland,
Grade Klaus,
Behrens Frauke,
Gedschold Jürgen,
Hein Jutta,
Szibor Reinhard,
Bauer Ingrid,
Brock Joseph,
Graupner Ina,
Urner Udo,
Leucht Barbara
Publication year - 1992
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380010205
Subject(s) - cystic fibrosis , biology , allele , genetics , mutation , δf508 , exon , phenotype , pancreatic disease , genotype , gene , cystic fibrosis transmembrane conductance regulator , endocrinology , pancreas
A representative multicenter cysic 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 DeltaF508, R553X, G542X, S549R, N, I, G551D, S1255X, R347P, H, and Y122X, were performed. As expected, the ΔF508 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 ΔF508 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 in R553X (13.3% of non‐ΔF chromosome) followed by R347P (9.2%) and G542X (4.4%). © 1992 Wiley‐Liss, Inc.