[Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland].

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.