Mutational analysis of 30 Slovenian cystic fibrosis patients compared to known Slovenian and European CF mutation spectra

More than 800 mutations have been indentified in the CFTR gene. This vast m utation diversity makes the search for molecular defects in cystic fibrosis difficult. Out of 100 Slovenian CF families, we have screened 30, using DG GE and SSCP as mutation detection techniques, while the remaining 70 have b een studied previously. Together our and the previous studies have been abl e to indentify 18 CF mutations which cover 77.6% of the CF alleles in those families. The relative frequency of Delta F508 is 62.7% which is significa ntly higher than the average reported for the Mediterranean South European region (51.6%). At the same time, significant differences in mutation frequ encies were found for the G542X, R1162X, W1282X, N1303K and 3905insT mutati ons. Several, otherwise rare mutations have been detected, such as: I148T, Q552X, 457TAT-->G, R1006H, 2907delTT, 3667ins4, A559T and C576A. An interes ting fact is that A559T was so far found mostly in CF patients of African-A merican origin. These results imply that a high heterogeneity of CF mutatio ns occurs within the small population of Slovenia, consisting only of 2 mil lion inhabitants. In view of the spectrum and frequencies of detected mutat ions, Slovenian population expresses characteristics of Mediterranean and c entral European countries, and at the same time shows also distinctive diff erences and unique region specific CF mutations (Q685X, D192G, S4X).