Wilson病与微卫星DNA的连锁分析  

Linkage analysis in Wilson's disease and microsatellite DNA.

作　　者：王丽娟[1,2,3] 梁秀龄[1,2,3] 刘焯霖 徐评议[1,2,3] 潘锡榜 孟炜[1,2,3] 沈福民 

机构地区：[1]广东省人民医院神经内科 [2]中山医科大学附属一院神经科 [3]上海医科大学流行病学教研室

出　　处：《中国神经精神疾病杂志》1998年第4期205-207,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：国家教委博士点基金

摘　　要：目的探索国人Ｗｉｌｓｏｎ病（ＷＤ）基因位点（ＷＮＤ）与ＡＦＭ２３８ｖｃ３、Ｄ１３Ｓ３０１、Ｄ１３Ｓ３１６、Ｄ１３Ｓ２９６、及ＡＦＭ０８４ｘｃ５等５个微卫星ＤＮＡ（ＳＴＲ）之连锁关系，对ＷＮＤ进行精确定位。为ＷＤ基因克隆奠定基础。方法对２０个ＷＤ家系１１３名成员及１００名正常对照组成员的ＤＮＡ进行５个ＳＴＲ的聚合酶链反应（ＰＣＲ）扩增片段长度多态性分析；对ＷＮＤ及５个ＳＴＲ进行二点配对及多点连锁分析。结果ＷＮＤ与Ｄ１３Ｓ３０１、Ｄ１３Ｓ３１６、Ｄ１３Ｓ２９６呈紧密连锁，与ＡＦＭ２３８ｖｃ３及ＡＦＭ０８４ｘｃ５呈中度连锁。Objective To study the linkage between Wilsons disease (WD) gene (WND) and five microsatellite DNA (or short tandem repeat, STR) including AFM238vc3, D13S301, D13S316, D13S296 and AFM084xc5. So as to refine the position of WND in Chinese. Methods The amplified fragment length polymorphism of the five STRs was analyzed in 20 Chinese WD families including 113 members and 100 normal controls. Pairwise linkage analysis and multipoint linkage analysis between WND and the five STR loci were performed. Results WND tightly linked with D13S316 and D13S296, moderately linked with AFM238vc3 and AFM084xc5. Conclusions The genetic linkage map could be deduced as Cen-AFM238vc3-D13S301-WND-D13S316-D13S296-AFM084xc5-Tel.

关 键 词：肝豆状核变性 微卫星DNA 连锁分析 

分 类 号：R742.4[医药卫生—神经病学与精神病学]