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

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.