应用D13S296位点多态性对肝豆状核变性家系的基因诊断  

Detecting the polymorphism of D13S296 in chinese and applying in gene diagnosis of wilson disease

作　　者：王丽娟[1] 梁秀龄[2] 刘焯霖[2] 徐评仪[2] 潘锡榜[2] 陈彪 

机构地区：[1]广东省人民医院神经内科,广东广州510080 [2]中山医科大学附属一院神经科,广东广州510080 [3]Parkinson's Institute

出　　处：《中风与神经疾病杂志》2000年第4期212-214,共3页Journal of Apoplexy and Nervous Diseases

基　　金：国家教委高等院校博士点学科专项科研基金!(编号9503106);广东省科委自然科学基金资助!(编号950334)

摘　　要：目的评估中国人群肝豆状核变性（Ｗｉｌｓｏｎ ｄｉｓｅａｓｅ，ＷＤ）基因（ＷＮＤ）侧翼徽卫星ＤＮＡ（ＳＴＲ）位点 Ｄ１３Ｓ２９６的基因多态性及在ＷＤ基因诊断中的价值。方法采用聚合酶链反应（ＰＣＲ）、变性聚丙烯酰胺凝胶电泳 和银染法分析９８名无血缘关系中国人Ｄ１３Ｓ２９６的片段长度多态性；并对１９个ＷＤ家系进行ＳＴＲ连锁分析。结果 Ｄ１３Ｓ２９６有１８个等位片段，长度范围为１０６－１４０ｂｐ，多态信息含量（ＰＩＣ）为０．９０６。共检出８例症状前患者，１０例 基因携带者及１４例正常人，４例未能确定，基因诊断率达８８．８７％。结论 Ｄ１３Ｓ２９６在中国人群是优秀的多态性标 记，对ＷＤ基因诊断有重要价值。Objective To investigate the polymorphism of the short tandem repeat (STR) locus,D13S296, which locating in flank of wilson disease(WD) gene (WND),and use it in gene diagnosis in WD. Methods The alleles of D13S296 were analyzed by using polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining in 98 unrelated Chinese. Take STR linkage analysis in 19 WD families. Results in Chinese, D13S296 included 18 alleles, and the alleic size were 106 ~ 140bp, polymorphism information content (PIC) was 0.907. In 109 individuals of 19 WD families,we founded 8 presymptomatic patients, 10 carriers, 14 normal people,4 could not determined,the rate of gene diagnosis was 88. 87 %. Conclusion D13S296 was an excellent polymorphism marker in Chinese and was very important in gene diagnosis of WD.

关 键 词：微卫星DNA D13S296位点 基因诊断 肝豆状核变性 

分 类 号：R742.404[医药卫生—神经病学与精神病学]