title: Prevalence of cystic fibrosis mutations in the East German population.
abstract: 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%).
authors.affiliation: Max-Delbrück-Center for Molecular Medicine Berlin-Buch, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Coutelle
authors.forename: R
authors.initials: R
authors.lastname: Brückner
authors.forename: K
authors.initials: K
authors.lastname: Grade
authors.forename: F
authors.initials: F
authors.lastname: Behrens
authors.forename: J
authors.initials: J
authors.lastname: Gedschold
authors.forename: J
authors.initials: J
authors.lastname: Hein
authors.forename: R
authors.initials: R
authors.lastname: Szibor
authors.forename: I
authors.initials: I
authors.lastname: Bauer
authors.forename: J
authors.initials: J
authors.lastname: Brock
authors.forename: I
authors.initials: I
authors.lastname: Graupner
mesh_terms: D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005838:Genotype; D005859:Germany, East / Q000453:epidemiology; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence; D012727:Sex Characteristics
chemical_list: D004247:DNA