Summary
Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (ΔF508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hungary, 30 nonΔF508 CF chromosomes were analyzed for selected mutations in exon 11 (G551D, R553X, G542X), intron 4 (621+1G→T), intron 10 (1717−1G→A), exon 20 (W1282X), and in exon 21 (N1303K) of the CFTR gene. In 6 of the 30 non-ΔF508 CF chromosomes the following mutations were detected: R553X, G542X, 1717−1G→A, W1282X, and N1303K. After analysis of the above eight mutations, 30% of CF chromosomes are as yet undefined and further analysis is planned.
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Nemeti, M., Johnson, J.P., Papp, Z. et al. The occurrence of various non-ΔF508 CFTR gene mutations among Hungarian cystic fibrosis patients. Hum Genet 89, 245–246 (1992). https://doi.org/10.1007/BF00217133
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DOI: https://doi.org/10.1007/BF00217133