中国人D13S314位点STR的多态性特征及其价值探讨

Character of short tandem repeat polymorphisms at D13S3l4 and its value in Chinese

D13S314位于Wilson’s病（WD）基因近端侧，其短串朕重复序列（STR）具有高度多态性，应用PCR方法结合变性聚丙烯酸胺凝胶电泳可迅速加以检测。本研究检测了8o名正常中国人该位点的等位片段，探讨其多态性分布特征并与西方人进行比较，表明该位点在中国人群中具有长度多态性，多态信息含量（PIC值）为o．89，有较高的应用价值。

Wilson's disease (WD ) is an autosomalrecessive disorder of copper transpott, WD genemapped on chromosome l3ql4- 3 had been isolatedin l993. Polymorphisms of short tandem repeats(STR) at Dl3S3l4 which is at flanking site of theWD gene can be detected by PCR amplification anddenaturing polyacry1amide gel electrophoresis- Inthis study, we detected 8O normal individuals andfounded that this STR is highly polymorphic inChinese,with PIC O. 89.