中国人D13S301位点的微卫星多态及其应用价值  

Analysis of Polymorphic Microsatellite at D13S301 in Chinese and Its Clinical Utility in Wilson's Disease

作　　者：许国英[1] 吴志英[1] 王柠[1] 慕容慎行[1] 余龙[1] 赵寿元[1] 

机构地区：[1]福建医学院附属第一医院神经内科,复旦大学遗传学研究所

出　　处：《中国神经免疫学和神经病学杂志》1996年第1期15-18,共4页Chinese Journal of Neuroimmunology and Neurology

基　　金：福建省教委科研基金国家自然科学基金

摘　　要：率先在国内应用ＰＣＲ技术扩增Ｗｉｌｓｏｎ病（ＷＤ）基因内部Ｄ１３Ｓ３０１位点的微卫星多态，通过变性聚丙烯酰胺凝胶电泳检测扩增产物，对８０名正常中国人进行了检测，结果具有１２种不同长度的等位片段，多态信息含量（ＰＩＣ值）为０．８８３，表明该位点在中国人群中具有长度多态性及较高的应用价值。应用该位点对１０个ＷＤ家系进行连锁分析，在２４名无症状个体中检出１２名基因携带者，７名正常纯合子及２名症状前患者，进一步证实该位点可用于ＷＤ的症状前诊断及杂合子筛选。A fragment that contains polymorphic microsatellite at D13S301 can be amplified by polymerase chain reaction and the allele identification of this locus can be performed with denaturing polyacrylamide gel electrophoresis. In this study, we detected 80 normal individuals and founded that this marker is highly polymorphic in Chinese, with PIC 0.883.The variability of allele length at this locus make it valuable for carrier detection and presymptomatic diagnosis. In 54 individuals of 10 families with Wilson′s disease, we founded 12 carriers,7normal people and 2 presymptomatic patients.

关 键 词：WILSON氏病 微卫星多态 连锁分析 肝豆状核变性 

分 类 号：R742.4[医药卫生—神经病学与精神病学]