与成人型多囊肾病PKD1基因紧密连锁的三种微卫星DNA在维吾尔族人群中的多态性研究  

Polymorphisms of Three microsatellite markers closely linked with PKD1 in chinese Uygur.

作　　者：周勇[1] 赵荣枝[1] 沙莎[1] 米力克扎提.巴吾东 郭卉[1] 

机构地区：[1]新疆医科大学基础医学院生物教研室,新疆830054

出　　处：《中国优生与遗传杂志》2005年第2期18-20,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 investigate the polymorphisms of three markers,which are KG8 located in 3′ untranslated region of PKD1 and AC2.5 and SM7 that closely linked to PKD1. Methods: The three microsatellite markers were amplified by polymerase chain reaction (PCR) followed by 8% denatured polyacrylamide gel electrophoresis (PAGE) and sliver staining to analyze the PCR product。 Results: InUygur,6 KG8 alleles,10 AC2.5 alleles and 6 SM7 alleles were observed; The expected heterozygosities(h) of KG8、AC2.5 and SM7 were 93.69%、94.90% and 80.89% respectively; The polymorphism information content(PIC) value of them were 0.914、0.930 and 0.764 respectively. Conclusion: KG8、AC2.5 and SM7 are highly polymorphic and can be used in genetic diagnosis of Uygur PKD1 gene.

关 键 词：多囊肾病 PKD1基因 微卫星DNA 杂合度 多态信息量 

分 类 号：R692.12[医药卫生—泌尿科学]