MOLECULAR-GENETIC ANALYSIS OF TURKISH CYSTIC-FIBROSIS PATIENTS

The cystic fibrosis (CF) gene was recently cloned and a three basepair deletion removing phenylalanine 508 from the coding region was identi fied as the mutation on the majority of cystic fibrosis chromosomes. T he frequency of this mutation varies among different geographic locati ons. In this study we analysed 25 Turkish families and have found the relative frequency of the delta F-508 (DF508) mutation to be 20.37 deg rees. This is similar to so. that reported in other Middle Eastern cou ntries and contrasts with the considerably higher frequencies encounte red in Northern Europe and North America, Molecular analysis of the tw o nucleotide binding folds (NBFs) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene with direct sequencing, has also sh own that the other defined mutations in these regions of the gene do n ot occur in the CF patients from the Turkish population. One patient p resenting with severe clinical features was determined to be a compoun d heterozygote for the mutations Delta F-508/1677delTA.