GENETIC-ANALYSIS OF CUBAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE KINDREDS USING RFLPS AND MICROSATELLITE POLYMORPHISMS LINKED TO THE PKD1 LOCUS

We report on linkage analysis and haplotype characterization in 12 Cub an families with autosomal dominant polycystic kidney disease (ADPK) u sing PKD1-linked markers. They included both standard restriction frag ment length polymorphisms (26.6., BLu24, and pGGG1) as well as microsa tellite polymorphisms (CW2, 16AC2.5, and SM6). All of the examined fam ilies were fully information for genetic diagnosis and no evidence of unlinked families was found. Analysis of two recombination events plac es PKD1 distal to the marker BLu24 and reduces the size of the region likely to contain the disease gene by approximately 300 kb. The allele frequencies of each marker were similar in the ADPKD and normal popul ations.