RESTRICTIVE FRAGMENT LENGTH POLYMORPHISMS OF MARKERS 3'HVR AND 24-1 AND THEIR APPLICATIONS IN G

• 作 者: 张思仲 丁兰 余裕炉 胡应 罗南富 张思孝 李虹
• 机 构: DepartmentofMedicalGenetics,WestChinaUnlversityofMedicalSciences,DepartmentofMedicalGenetics,WestChi
• 出 处: Chinese Medical Journal
• 发表日期: 1994年01期
• 关键词: heterozygosity bands polymorphic genomic numerous flank varied noted DNA thoroug

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

Adult polycystic kidney disease was diagnosed with pedi-gree analysis using polymorphic DNA markers linked to the disease 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 numerous 3’HVR / Pvull 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 the heterozygosity ratcof 0.86. Allele frequencies were observed. When the probe 24-1 was hybridized with genomic DNA digested by TaqI, twoalleles, 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 linkingage analyzes of 5 affected families, we confirmed the linkage between 3’HVR and the disease gene PKDI and madepresymptomatic