5,10-亚甲基四氢叶酸还原酶基因启动子区域甲基化状态与先天性心脏病的关系  

Association of Methylation Status of Promoter Region of Methylene Tetrahydrofolate Reductase Gene with Congenital Heart Disease

作　　者：张文迪[1] 余肖[1] 黄姗[1] 罗小平[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,武汉430030

出　　处：《实用儿科临床杂志》2012年第1期11-13,共3页Journal of Applied Clinical Pediatrics

基　　金：国家重点基础研究发展计划(973计划)(2005CB5225007);国家科技支撑计划(2006BA105A07)

摘　　要：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 compare the methylation status of the promoter region of methylene tetrahydrofolate reductase （MTHFR） gene in children with congenital heart disease（CHD） and control children without congenital birth defects ,in order to explore the relationship be- tween MTHFR promoter methylation status and CHD in children. Methods Peripheral venous blood samples of 53 patients with CHD（ case group） and 80 control children without congenital birth defects （control group） were collected. All subjects were 10 months - 14 years old, and were all from Wuhan city and its outskirts,29 cases were male and 24 cases were female in case group,and 44 cases were male and 36 eases were female in control group, and they were all Hans. The DNA from leukocytes was abstracted. Then, the DNA was modified by sodium bisul- rite and detected by methylation specific PCR（MSP） amplification;the primers were used to detect the methylation status in the promoter region of MTHFR. And the relationship of the methylation status of promoter region of MTHFR and CHD was analyzed by chi - square test using SPSS 15.0 software. Results The MSP analysis revealed that the numbers of non - complete methylation in the cases group and the control group were 36 （67.92%） cases and 69 （ 86.25 % ） cases, respectively ; the numbers of partial methylation in case group and control group were 15（28.30% ） cases and 9 （11.25%） cases, respectively; the numbers of complete methylation in case group and control group were 2 （3.78%） cases and 2 （2： 50% ） cases respectively. There was a significantly statistical difference between the 2 groups （χ2 = 6. 554, P =0. 038 ）. Conclusion The causative mechanisms of CHD is possibly correlative with the hvoermethvlation of the promoter region of MTHFR.

关 键 词：先天性心脏病 5 10-亚甲基四氢叶酸还原酶 甲基化 启动子 

分 类 号：R725.4[医药卫生—儿科]