engleski

The incidence of cystic fibrosis (CF) mutations among patients from Croatia

Because of the variable distribution of mutations in CFTR in the world, there is a need to characterise the spectrum of mutations in different countries, which enables the establishment of appropriate population genetic screening strategies. We have studied blood samples of 30 CF patients of unrelated Croatian families. The presence of six different mutations was observed on 60 CF chromosomes:deltaF508, G542, 1717-1G--A, R117h, N1303K and R1162X. One rare mutation G85E was detected in 2 members of the same family. These 7 mutations account for 83.3% of CF alleles in Croatian CF patients.

cystic fibrosis; gene mutations

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