【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。更多还原

【Abstract】 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.更多还原