[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.
Witt
M
M
Zespół Genetyki Molekularnej i Klinicznej, Zakład Genetyki Człowieka PAN, Poznań.
Pogorzelski
A
A
Bal
J
J
Rutkiewicz
E
E
Majka
L
L
Sobczyńska
A
A
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
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator