血浆同型半胱氨酸、叶酸、5,10-亚甲基四氢叶酸还原酶基因多态性与先天性心脏病的相关性研究  

Maternal homocysteine folic acid, MTHFR gene polymorphism and congenital heart defects in offspring

作　　者：刘虹[1] 李松[1] 叶鸿瑁[1] 韩玲[2] 孟昭亨[3] 朱慧萍[3] 郝玲[3] 李勇[3] 

机构地区：[1]北京大学第三医院儿科,100083 [2]北京市安贞医院小儿心脏科 [3]北京大学生育健康研究所

出　　处：《中华围产医学杂志》2002年第2期102-105,共4页Chinese Journal of Perinatal Medicine

基　　金：国家教育委员会博士点基金资助项目 (基金编号19990 0 2 414 );国家自然科学基金资助 (基金编号 3 973 0 470 )

摘　　要：目的　研究母亲血浆同型半胱氨酸 (HCY ) ,叶酸及 5 ,10 -亚甲基四氢叶酸还原酶(MTHFR)第 6 77位核苷酸多态性与子女先天性心脏病 (CHD)的相关性。　方法　选择 CHD患儿母亲 32例和正常儿童母亲 2 3例 ,应用高压液相色谱检测血浆 HCY水平 ,放射免疫法检测血浆叶酸水平 ,PCR- REL P方法检测 MTHFR基因型。　结果　以正常值 15μmol/ L为界 ,CHD母亲组发生高HCY血症的有 11例 ,占该组的 34% ,对照组均在正常范围无增高者 ,经χ2 检验两组差异有高度显著性 (P<0 .0 1)。血浆叶酸 CHD母亲组为 (4.9± 3.6 )μg/ L ,小于对照组 (6 .8± 2 .2 )μg/ L ,差异有显著性 (P<0 .0 5 )。两组母亲 MTHFR纯合突变率的差异无显著性。　结论　母亲血浆 HCY升高及叶酸降低是子女 CHD发生的危险因素 ,叶酸预防 CHD的途径可能与降低血浆 HCY有关 ,母亲 MTHFR基因第 6 77位的突变与子女 CHD的发生无相关性。Objective To explore the relationship between maternal homocysteine (HCY), folic acid, 5, 10 methylenetetrahydrofolate reductase (MTHFR) genotypes(677C→T) and occurrence of congenital heart disease (CHD) in offspring. Methods HPLC technique was used to measure the level of total plasma HCY in 32 mothers of CHD children and 23 mothers of normal children, radio immunoassay was used to measure folic acid, and MTHFR genotypes were detected by PCR RELP analysis. Results The incidence of hyperhomocysteinemia(Hhe) (34%,11 cases) in CHD maternal group was significantly higher than that in normal maternal group( P <0.01). The folic acid level of CHD maternal group was significantly lower than that of normal maternal group(4.9±3.6) μg/ml vs (6.8±2.2) μg/ml,( P <0.05). There was no significant difference on prevalence of homozygous MTHFR mutation(677C→T) between two groups. Conclusions There are associations between maternal HCY, folic acid and offspring's CHD. Maternal hyperhomcysteinemia maybe involve in the pathogenesis of CHD in offsprings. The prevention effect of folic acid would be through the correction of maternal HCY. Homozygous mutation of MTHFR(677C→T) in mother does not appear to be involved in offspring's CHD. This study suggested that women of child bearing age should increase folic acid intake to prevent CHD.

关 键 词：血浆 同型半胱氨酸 叶酸 5 10-亚甲基四氢叶酸还原酶 基因多态性 先天性心脏病 相关性 

分 类 号：R541.1[医药卫生—心血管疾病]