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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 determine the linkage between the candidate gene TCAP and familial familial hypertrophic cardiomyopathy (HCM) in two Han Chinese families. Methods: Excluding 13 known familial HCM genes and familial familial HCM in these two Han families, TCAP gene was selected as the candidate causative gene of HCM pedigrees in these two Han Chinese families. Four microsatellite markers (Marker) were selected for haplotype linkage analysis. Results: The four microsatellite markers D17S1814, D17S838, D17Sac091178 and D17S1818 had a LOD value of -2.689754 ~ -0.645666 at the recombination rate θ = 0 and a LOD value of -1.396476 ~ 0.416726 in the family 2. At the recombination rate θ = 0.1, the largest LOD in both families was only 0.272605. CONCLUSION: The TCAP gene is not linked to the HCM of the two Han Chinese pedigrees. The TCAP gene is not the causative gene of the two Chinese pedigrees, suggesting that the causative genes of the two Han Chinese pedigrees may be brand new unknown causative genes.