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目的研究gelsolin(GSN)基因在圆锥动脉干畸形(conotruncal defect,CTD)胎儿心肌组织中甲基化水平,探讨其与该基因低表达是否存在联系。方法选取12例CTD胎儿右室流出道心肌组织,13例正常胎儿作为对照,采用亚硫酸氢盐测序方法(bi sulfite-PCR,BSP)研究CTD胎儿心肌组织中GSN基因启动子区甲基化水平变化。结果 CTD胎儿组与正常胎儿组整体甲基化水平均低于5%,呈现低甲基化状态,两组间无明显统计学差异;各CpG位点甲基化水平亦无统计学差异。结论 CTD胎儿心肌组织中GSN基因的低表达可能与该基因启动子区甲基化水平无关,可能受其它调控因素。
Objective To investigate the methylation level of gelsolin (GSN) gene in fetal cardiac muscle of conotruncal defect (CTD) and to explore whether there is a relationship between the gelsolin (GSN) gene and the low expression of this gene. Methods 12 cases of CTD fetal right ventricular outflow tract myocardial tissue and 13 normal fetuses were selected as control. The methylation level of GSN gene promoter region in CTD fetus was examined by bi sulfite-PCR (BSP) Variety. Results The overall methylation level of CTD fetus group and normal fetus group was less than 5%, showing hypomethylation status. There was no significant difference between the two groups. Methylation level of each CpG locus was also not significantly different. Conclusion The low expression of GSN gene in CTD fetal myocardium may not be related to the methylation level of promoter region of CTD, which may be affected by other regulatory factors.