摘要
Adult polycystic kidney disease was diagnosed with pedi-gree analysis using polymorphic DNA markers linked to thedisease gene in 5 families. The markers were thoroughly charac-terized in the population. We noted two important markers,3’HVR and 24-1, which flank the disease gene PKD1 in nor-mal Chinese. Southern hybridization was used, and numerous3’HVR / Pvull polymorphic allelic bands varied from 1.4 kb to8.0 kb with a positive skew distribution. They were divided into11 groups with an interval of 0.6 kb and a heterozygosity ratcof 0.86. Allele frequencies were observed. When the probe24-1 was hybridized with genomic DNA digested by TaqI, twoalleles, B1 and B2, were detected with frequencies of 0.76 and0.24, respectively. B1 was 3.8 kb in size and B2 was composedof 2 bands, 1.5 kb and 1.3 kb. The polymorphism informationcontent was found to be 0.297. Using these two markers forlinkage analyses of 5 affected families, we confirmed thelinkage between 3’HVR and the disease gene PKDI and madepresymptomatic
