中国人D13S316位点CA重复序列的多态性分析

Analysis of CA polymorphisms at D13S316 in Chinese.

应用ＰＣＲ方法扩增Ｄ１３Ｓ３１６位点的ＣＡ重复序列，通过变性聚丙烯酰胺凝胶电泳检测扩增产物，测定８０名正常中国人的多态频率，结果得到９种不同的等位片段，ＰＩＣ值为０．８０，表明该位点在中国人群中具有长度多态性；正常家系连锁结果呈孟得尔分离，因此，可用于Ｗｉｌｓｏｎ病家系的基因诊断。

A fragment that contains a CA repeats sequence at D13S316 can be amplified by polymerase chain reaction and the allele indentification of this locus can be performed with denaturing polyacrylamide gel electrophoresis.In this study,we detected 80 normal individuals and founded that this CA repeats is highly polymorphic in Chinese,with PIC 0.80.The result of linkage analysis makes it valuable for gene diagnosis of the families with Wilsons disease.