SM6和CW2在广西壮、瑶族人群中的遗传多态性分析  

THE POLYMORPHISMS OF SM6 AND CW2 OF PKD_1 IN ZHUANG AND YAO ETHNIC POPULATIONS OF GUANGXI

作　　者：赵铖[1] 苏上贵[2] 伍巧源[1] 赖永榕[1] 杨桢华[1] 黎伟[1] 

机构地区：[1]广西医科大学第一附属医院内科,南宁530021 [2]广西医科大学生物化学与分子生物学教研室

出　　处：《广西医科大学学报》2007年第1期23-26,共4页Journal of Guangxi Medical University

基　　金：广西科学基金资助项目(No桂科青0135019)

摘　　要：目的：探索与多囊肾病基因PKD1连锁相关的微卫星SM6和CW2在广西壮、瑶两个主要少数民族人群中的多态性分布规律及其在基因诊断中的有效性.方法：采用PCR体外扩增SM6和CW2两个位点的DNA片段,然后用非变性聚丙烯酰胺凝胶电泳分离等位基因,以标准DNA片段为标识进行比较,作直线回归计算等位基因片段的大小.结果：在SM6位点,被检的63名壮族人和64名瑶族人,分别分离出23种和28种等位基因,片段长度在88～158 bp和84～152 bp之间,其多态信息含量（PIC）分别为0.898和0.931;而在CW2位点,两个民族人群分别检测到了25种和24种等位基因,片段长度在105～157 bp和109～163 bp之间,其PIC分别为0.926和0.931.结论：两个民族在SM6位点和CW2位点的等位基因分布不相同,SM6和CW2均可用于广西壮、瑶族人群PKD1基因诊断.Objective： To investigate the allelic distribution at microsatellite SM6 and CW2 site of Adult Polycystic Kidney Disease （PKD1） in Guangxi Zhuang and Yao ethnic populations. Methods： To get the gene fragment by using Polymerase Chain Reaction（PCR）,and electrophoresis with non-deteriorative polyacrylamide-gel, then calculate their lengths separately through linear regression with DNA marker. Result： At SM6,there are 23 and 28 kinds of allele between 88-158 bp in 63 Zhuang , and 84-152 bp in 64 Yao. At CW2, there are 25 or 24 kinds of allele between 105-157 bp, 109-163 bp separately. The polymorphism information content （PIC） values of SM6 and CW2 were 0. 898 and 0. 926 in the Guangxi Zhuang and 0. 931 and 0. 931 in the Guangxi Yao. Conclusion： There are differences in the allelic distribution of SM6 and CW2 in Guangxi Zhuang and Yao population. SM6 and CW2 can be used in genetic diagnosis of both Guangxi Zhuang and Yao PKD1 families.

关 键 词：成人多囊肾病 PKD1基因 多态性 微卫星 

分 类 号：R596[医药卫生—内科学]