论文部分内容阅读
目的 研究常染色体显性遗传型多囊肾病PKD1基因内的微卫星DNAKG8及与PKD1紧密连锁的微卫星DNAAC2 .5和SM 7在维吾尔族中进行基因诊断的有效性。方法 采用聚合酶链反应、8%变性聚丙烯酰胺测序凝胶电泳(PAGE)和常规银染法分析 37名维吾尔族正常人的AC2 .5、SM 7和KG83个微卫星DNA的多态性。结果 KG8有 6种等位基因片段 ,期望杂合度 (h)为 93.6 9% ,多态信息含量 (PIC)为 0 .914 ;AC2 .5有 10种等位片段 ,h为 94 .90 % ,PIC为 0 .930 ;SM 7有 6种等位片段 ,h为 80 .89% ,PIC为 0 .76 4。结论 KG8、AC2 .5、SM7均为高度多态的遗传标记 ,可用于维吾尔族PKD1的连锁基因诊断。
Objective To study the effectiveness of microsatellite DNAKG8 in PKD1 gene of autosomal dominant polycystic kidney disease and microsatellite DNAAC2.5 and SM 7 which are closely linked with PKD1 in the gene diagnosis of Uygur. Methods Polymerase chain reaction, 8% denaturing polyacrylamide gel electrophoresis (PAGE) and routine silver staining were used to analyze the polymorphism of AC2.5, SM7 and KG83 microsatellite DNA in 37 Uighur normals. Results There were 6 alleles in KG8, expected heterozygosity (h) was 93.6 9%, polymorphism information content (PIC) was 0.914, AC2.5 was 10 alleles, h was 94.90% PIC was 0.930; SM 7 had 6 alleles, h was 80.89% and PIC was 0.76 4. Conclusion KG8, AC2. 5, SM7 are highly polymorphic genetic markers, which can be used for the linkage gene diagnosis of Uygur PKD1.