Restrictive fragment length polymorphisms of markers 3'HVR and 24-1 and their applications in gene diagnosis of adult polycystic disease in Chinese.

Adult polycystic kidney disease was diagnosed with pedigree analysis using polymorphic DNA markers linked to the disease gene in 5 families. The markers were thoroughly characterized in the population. We noted two important markers, 3'HVR and 24-1, which flank the disease gene PKD1 in normal Chinese. Southern hybridization was used, and numerous 3'HVR/PvuII polymorphic allelic bands varied from 1.4 kb to 8.0 kb with a positive skew distribution. They were divided into 11 groups with an interval of 0.6 kb and a heterozygosity rate of 0.86. Allele frequencies were observed. When the probe 24-1 was hybridized with genomic DNA digested by TaqI, two alleles, B1 and B2, were detected with frequencies of 0.76 and 0.24, respectively. B1 was 3.8 kb in size and B2 was composed of 2 bands, 1.5 kb and 1.3 kb. The polymorphism information content was found to be 0.297. Using these two markers for linkage analyses of 5 affected families, we confirmed the linkage between 3'HVR and the disease gene PKD1 and made presymptomatic diagnosis of the members at risk.