中国南方汉人D13S316位点多态性及Wilson病基因诊断的研究  

Polymorphism of D13S316 in sourth Chinese and its role in gene diagnosis of Wilson disease.

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

机构地区：[1]广东省人民医院神经内科,510080 [2]中山医科大学附属一院神经科 [3]美国帕金森病研究所

出　　处：《中国神经精神疾病杂志》2000年第2期90-92,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：国家教委高等院校博士点学科专项科研基金!(批准编号 :950 31 0 6);广东省科委自然科学基金!资助 (批准编号 :950 334)

摘　　要：目的　评估中国南方汉人Wilson病 (WD)基因 (WND)侧翼微卫星DNA(STR)位点D13S3 16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脉和银染法分析 84名无血缘关系中国南方汉人D13S3 16的片段长度多态性 ;并对 19个WD家系进行STR连锁分析。结果　D13S3 16有 19个等位片段 ,长度范围为 13 4～ 170bp ,多态信息含量 (PIC)为 0 93 1。共检出 8例症状前患者 ,10例致病基因携带者及 15例正常人 ,3例未能确定 ,基因诊断率达 91 67%。结论　D13S3 16大致代表中国南方汉人的多态性标记 ,对WD基因诊断有重要价值。Objective To investigate the polymorphism of the short tandem repeat (STR) locus, D13S316 locating in flank of Wilson disease (WD) gene (WND) for the gene diagnosis of WD. Methods The alleles of D13S316 were analyzed with polymerase chain reaction (PCR), polyacrylamide gel with polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PACE) and silver staining in 84 unrelated Chinese. STR linkage analysis was performed in 19 WD families. Results In Chinese, D13S316 included 19 alleles, and the allelic size were 134～170 bp, polymorphism information content (PIC) was 0 931. In 109 individuals of 19 WD families, we found 8 presymptomatic patients, 10 carriers and 15 normal people, 3 could not be determined. The rate of gene diagnosis was 91 67%. Conclusions D13S316 was an excellent polymorphism marker in Chinese and was very important in gene diagnosis of WD.

关 键 词：肝豆状核变性 基因诊断 遗传多态性 D13S316 

分 类 号：R394[医药卫生—医学遗传学]