title: [Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].
abstract: Based on the Polish Registry of Cystic Fibrosis the analysis of alive CF adults (18 y.a. and more) was performed. Out of 156 Polish CF adults, in 106 (68.0%) identification of the CFTR gene mutations was performed. Relative frequencies of 24 mutations of CFTR gene mutations is 72.2%. Frequencies of the most common mutations are: delta F508 49.06%, 3849 + 10kbCT 8.96%, G542X 1.89%; in Polish CF adults mutations other than delta F508 comprise 23.13% of CF alleles. The most common genotype delta F508/delta F508 occurs with the frequency 22.6%, significantly lower than in CF children; genotype delta F508/3849 + 10kbCT occurs with the frequency 11.3%, and this value is significantly higher than in other age groups.
authors.affiliation: Zespół Genetyki Molekularnej i Klinicznej, Zakład Genetyki Człowieka PAN, Poznań.
authors.forename: M
authors.initials: M
authors.lastname: Witt
authors.forename: A
authors.initials: A
authors.lastname: Pogorzelski
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: E
authors.initials: E
authors.lastname: Rutkiewicz
authors.forename: L
authors.initials: L
authors.lastname: Majka
authors.forename: A
authors.initials: A
authors.lastname: Sobczyńska
mesh_terms: D000328:Adult; D000367:Age Factors; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D009154:Mutation
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator