2个汉族肥厚型心肌病家系致病基因与TCAP基因的关系研究  

Linkage analysis of candidate gene TCAP in 2 Chinese families with familial hypertrophic cardiomyopathy

作　　者：向娟[1] 张代富[1] 王娟[1] 周华[1] 罗裕[1] 胡铂[1] 张宇辉[1] 何晓燕[1] 陈明[1] 李新明[1] 胡大一[2] 

机构地区：[1]同济大学附属东方医院心内科,上海200120 [2]同济大学心肺血管研究中心

出　　处：《临床心血管病杂志》2008年第1期10-14,共5页Journal of Clinical Cardiology

基　　金：国家自然科学基金项目(No:30700776);上海市青年科技启明星计划项目(No:07QA14059);上海市卫生局青年基金项目(No:054Y34);浦东新区卫生科技项目(No:PW2005A-4)

摘　　要：目的:确定候选基因TCAP与两个汉族家系家族性肥厚型心肌病(HCM)之间的连锁关系。方法:在排除13个已知家族性HCM致病基因与这两个汉族家系家族性HCM的连锁关系基础上,选择TCAP基因作为这两个汉族HCM家系的候选致病基因,在其所在的染色体区域选取4个微卫星标记(Marker)进行单倍型连锁分析。结果:D17S1814、D17S838、D17Sac091178和D17S1818这4个微卫星标记在重组率θ=0时,家系1的LOD值在-2.689754^-0.645666范围内,家系2的LOD值在-1.396476~0.416726之间;在重组率θ=0.1时,两个家系中最大的LOD值仅为0.272605。结论:TCAP基因与这两个汉族家系的HCM无连锁关系,TCAP基因不是这两个家系的致病基因,提示这两个汉族家系的致病基因可能是全新的未知致病基因。Objective：To explore the linkage of the candidate gene TCAP to hypertrophic cardiomyopathy in 2 Han Chinese families. Method： Two Han Chinese families with hypertrophic cardiomyopathy were identified, on the basis of excluding the linkage of other 13 known disease-causing genes to familial hypertrophic cardiomyopathy （FHCM）. TCAP was selected as another candidate gene and its 4 microsatellite markers of D17S1814, D17S838, D17Sac091178 and D17S1818 were used for linkage analysis. Result： The λLOD scores of the 4 microsatellite markers were -2.689754～-0.645666 and -1.396476～0.416726 in family 1 and 2 respectively, when θ=0; The highest LOD score of the 2 families was 0. 272605 when θ=0. 1. Conclusion：The TCAP gene is not linked to FHCM in these 2 Han Chinese families, and the other novel gene may be responsible for them.

关 键 词：心肌病 肥厚型 微卫星重复 TCAP基因 

分 类 号：R542.2[医药卫生—心血管疾病]