DETECTION OF FREQUENT MUTATIONS OF GENE C FTR IN CYSTIC-FIBROSIS PATIENTS FROM CENTRAL RUSSIA

About 100 patients with cystic fibrosis (CF) from the European part of Russia were screened for mutations 2143delT, 2184insA, S1196X, 3732de lA, and W1282X. The patients had one or two mutations (other than Delt a F508) in CF chromosomes. The frequency of these mutations were estim ated in CF chromosomes without the Delta F508 mutation. The frequencie s of mutations 2143delT, 2184insA, S1196X, and W1282X were 2.9, 7.4, 2 .2, and 4.8%, respectively. Linkage was found between allele 6 of the variable site (a tetranucleotide repeat in intron 6 of the gene for CF ) and mutations G542X and 2143delT, as well as between allele 7 and mu tations R334W, 2184insA, S1196X, and W1282X. Except for Delta F508, th e most common mutations were 2184insA, 2143delT, and W1282X.