目的通过比较先天性心脏病(CHD)患儿与无先天性出生缺陷儿童的5,10-亚甲基四氢叶酸还原酶(MTHFR)基因启动子区域甲基化状态,探讨MTHFR基因启动子甲基化状态与儿童CHD的关系。方法收集53例CHD患儿(病例组)及80例无先天性出生缺陷的儿童(对照组)外周静脉血液标本。二组儿童年龄为10个月～14岁,均为武汉市及周边地区的汉族人。病例组男29例,女24例;对照组男44例,女36例。首先提取血液白细胞DNA,然后对DNA进行亚硫酸氢钠修饰,采用甲基化特异性PCR(MSP)技术通过特异性引物检测MTHFR基因启动子区域甲基化状态。应用SPSS 15.0软件进行χ2检验,分析MTHFR基因启动子区域甲基化状态与CHD的关系。结果 MSP分析显示,病例组和对照组MTHFR基因启动子区域非甲基化分别为36例(67.92%)和69例(86.25%),部分甲基化分别为15例(28.30%)和9例(11.25%),甲基化分别为2例(3.78%)和2例(2.50%),2组间MTHFR基因启动子甲基化状态的差异具有统计学意义(χ2=6.554,P=0.038)。结论 MTHFR基因启动子区域超甲基化可能是导致CHD发病的原因之一。 Objective To investigate the methylation status of the promoter region of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in children with congenital heart disease (CHD) and without congenital birth defects, and to explore the role of MTHFR promoter The relationship between the status of alkalization and CHD in children. Methods Peripheral venous blood samples from 53 children with CHD (case group) and 80 children without congenital birth defects (control group) were collected. The two groups of children aged 10 months to 14 years old, are Han and Wuhan in the surrounding areas. There were 29 males and 24 females in the case group, 44 males and 36 females in the control group. First, blood leukocyte DNA was extracted, and then the DNA was modified with sodium bisulfite. Methylation-specific PCR (MSP) was used to detect the methylation status of MTHFR gene promoter region by specific primers. SPSS15.0 software was used forχ2 test to analyze the relationship between methylation status of MTHFR gene promoter region and CHD. Results MSP analysis showed that the methylation of MTHFR gene promoter region was 36 (67.92%) and 69 (86.25%) in the case and control groups, respectively, and partial methylation was 15 (28.30%) and 9 The methylation status of MTHFR gene promoter in two groups was statistically significant (χ2 = 6.554, P = 0.038) . Conclusion Hypermethylation of MTHFR gene promoter region may be one of the causes of CHD.