engleski

The occurrence of the most common CFTR mutations among Croatian cystic fibrosis patients

Cystic fibrosis is the most common recessive disorder caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR). Over 700 different mutations within the CFTR gene have been reported, and their distribution depends on ethnic and geographic origin of CF patients. Most of the nations in Europe have identified their major CF mutations and so already established CF screening programme. Since there is no much data concerning the CFTR mutations among cystic fibrosis patients of Croatian origin, the aim of our study was to identify the most common mutations and to create CF screening programme that would enable a complete CF mutation detection among our patietns. To obtain this we studied the 16 most frequent CF mutations ; DF508, G542X, G551D, W1282X, 3905insT, N1303K, 3849+10kbC--T, R553X, 621+1G--, 1717-1G--A, 2789+5G--A, 3849+4A--G, R1162X, 1898*1G--A, R117H and DI507 (issued by CF Genetic Analysis Consortium). Wa also used DGGE method for exons 3, 4, 7, 10, 11, 13, 19 and 20 to find some other mutations. The result of molecular analysis of 66 CF chromosome revealed the following frequency of detected mutations: DF508 (62%), G542 (7, 6%), N1303K (3%), G85E (3%), 1717-1G--A (3%), R117H (3%), and R1162X (1.5%). In the two families the polymorphism P1290P was found. Since 16.9% of CF alleles in this study were yet unidentified, furtehr analyisis is planed, including screening for nes mutations and DNA sequencing.

cystic fibrosis; mutations; prevalence

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