与成人多囊肾病PKD2基因紧密连锁的四种微卫星DNA在中国汉族人群中的多态性

目的 分析与成人多囊肾病PKD2基因紧密连锁的4种微卫星DNA D4S1534、D4S1563、D4S423和D4S414在中国汉族人群中的多态性，为该病的异质性研究奠定基础。方法 采用聚合酶链反应、聚丙烯酰胺凝胶电泳和银染技术对部分无血缘关系的中国汉族人的上述4个微卫星DNA进行了多态分析。结果 在中国汉族人群中，D4S1534、D4S1563、D4S423和D4S414的等位片段分别为11种、14种、17种和15种，其等位片段大小分别为142－162bp、205－235bp、103－135bp和236－264bp，多态信息量分别为0.872、0.844、0.921和0.871。结论 在研究的中国汉族人群中，D4S1534、D4S1563、D4S423和D4S414这4种微卫星有较多的等位片段，均是高度多态的遗传标记，人为类群体遗传学提供了数据，表明这4种微卫星可用于成人多囊肾病的遗传异质性的研究、连锁分析、法医学个体鉴定和亲权鉴定。

Polymorphisms of four microsatellite markers tightly linked with polycystic kidney disease 2 gene in Chinese

Objective To investigate the polymorphisms of four microsatellites,D4S1534, D4S1563,D4S423 and D4S414, which are tightly linked to polycystic kidney disease 2 (PKD2) gene, and hence to provide a basis for studying the heterogeneity of adult polycystic kidney disease (APKD).Methods An analysis on the DNA of some unrelated Chinese people was performed using polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining. Results In Chinese Hans, there are 11 alleles of D4S1534, and their sizes are 142-162 bp;14 alleles of D4S1563, 205-235 bp;17 alleles of D4S423, 103-135 bp; and 15 alleles of D4S414, 236-264 bp.The polymorphism information contents of the four microsatellites are 0.872,0.844,0.921 and 0.871 respectively. Conclusion In the Chinese Han people studied above, the four microsatellite markers that have many alleles are highly polymorphic genetic markers and may serve as the data of population genetics, suggesting that all four microsatellites could be used in studies on heterogeneity of APKD,linkage analysis of APKD and forensic personal identification.