摘要
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 D4S15 34、D4S15 6 3、D4S42 3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 ,D4S15 34、D4S15 6 3、D4S42 3和 D4S414的等位片段分别有 11种、14种、17种和 15种 ,其等位片段大小分别为 142～ 16 2 bp、2 0 5～ 2 35 bp、10 3～ 135 bp和 2 36～ 2 6 4bp,多态信息量分别为 0 .872、0 .844、0 .92 1和 0 .871。结论 在研究的中国汉族人群中 ,D4S15 34、D4S15 6 3、D4S42 3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 ,为人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。
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.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2002年第1期33-36,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金 (39770 347)~~
