engleski

F508 deletion in Croatian cystic fibrosis patients

Recently a cystic fibrosis (CR) gene was cloned and deletion of phenylalanine codone 508, a major and a most common gene mutation in CF detected. In this study, deletion of F508 was analysed in 30 Croatian families affected with CF. Results of genotyping performed by PCR-technology showed F508 to be present in 53% individuals examined to date. In a previous report of F508 frequency in CF families from the territory of former Yugoslavia a much lower percentage was found, presumably because of the different ethnic background of the population resident in the southern part of the country. The variable clinical presentations in our patients were in good agreement with their genotype, all patients homozygous for F508 mutation being pancreatic insufficient (PI), and most of the heterozygotes pancreatic sufficient (PS), with milder disease expression. Direct determination of the mutation responsible for cystic fibrosis represents a considerable advancement for prenatal diagnosis, especially in families in which the analysis of the diseased child's DNA sample cannot be performed. By use of this technique a more extensive screening of heterozygotes for CF is allowed.

cystic fibrosis; F508 mutation; PCR-technology

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