MUTATION ANALYSIS OF 10 EXONS OF THE CFTR GENE IN GREEK CYSTIC-FIBROSIS PATIENTS - CHARACTERIZATION OF 74.5-PERCENT OF CF ALLELES INCLUDINGONE NOVEL MUTATION

To initiate the complete characterization of mutations in the CFTR gen e in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively commonn mutations (Delta F 508, G542X, G551D, 621+1 G- ->T, N1303K, W1282X) using allele-specific hybridization and, in addit ion, analyzed exons 4, 5, 7, 8, 10, 11, 17b, 19, 20 and 21 using the m ethod of denaturing gradient gel electrophoresis (DGGE). Six mutations accounted for 65.9% of the CF alleles in Creek patients, of which the Delta F 508 mutation had a frequency of 52.7%. A further 15 previousl y described mutations accounted for another 8.3% CF alleles and one pr eviously undescribed mutation (3272-4A-->G) was found in one chromosom e. The W1282X mutation was not detected at all. Thus, so far, we have identified 21 mutations in the CFTR gene in Greek CF patients, account ing for 74.5% of the CF alleles.