title: Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population.
abstract: The aim of this study was to reveal the CFTR gene mutation status in the Croatian population as well as to establish the haplotypes associated with cystic fibrosis (CF) and those associated with specific gene mutations. A total of 48 unrelated CF patients from Croatia were examined. Among 96 tested alleles, we found nine different mutations: DeltaF508, 58.33%; G542X, 3.12%; N1303K, 2.08%; R1162X; 621 + 1G --> T; G85E; Y569C; E585X; and S466X, 1.04%. Analysis of three polymorphic loci revealed 15 different haplotypes. Two of them (21-23-13 and 21-17-13) occurred with a higher frequency (40% and 24%). Both of these haplotypes also carried a CFTR gene mutation (DeltaF508 or G542X) on 27 out of 32 chromosomes. Among 12 (of all together 29) CF alleles on which no mutations were found, we detected 10 different haplotypes. Because there are still no published data on the distribution of polymorphic loci in Croatia, nor haplotypes associated with mutations in the CFTR gene, our results greatly contribute to knowledge regarding the genetic background of CF in this region.
authors.affiliation: Division of Molecular Medicine, Rudjer Bosković Institute, Zagreb, Croatia.
authors.forename: Jelena
authors.initials: J
authors.lastname: Knezević
authors.forename: Goranka
authors.initials: G
authors.lastname: Tanacković
authors.forename: Tanja
authors.initials: T
authors.lastname: Matijević
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barisić
authors.forename: Jasminka
authors.initials: J
authors.lastname: Pavelić
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D017523:Croatia; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009679:Nuclear Family; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator