MTR、MTRR基因多态性与先天性心脏病的相关性研究

宫婷; 李芬; Huang Hui; Dong Xiaoyu; 冯竣; 唐小妮

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MTR、MTRR基因多态性与先天性心脏病的相关性研究

论著 | 更新时间：2025-01-15

- MTR、MTRR基因多态性与先天性心脏病的相关性研究
- Relationship of maternal and child polymorphism in methionine synthetase and methionine synthase reductase with congenital heart disease
- 陆军军医大学学报 2010年32卷第2期页码：127-130
- 作者机构：
  
  1. 西安交通大学医学院第一附属医院：妇幼中心,先心周围血管科
  2. Department of Mathematics and Statistics,University of Maryland,Baltimore County
- 作者简介：
- 基金信息：
- DOI：
  中图分类号： R181.33;R394-33;R541.1
- 纸质出版日期：2010，
  
  网络出版日期：2010-01-30，
- 稿件说明：
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宫婷, 李芬, Huang Hui, 等. MTR、MTRR基因多态性与先天性心脏病的相关性研究[J]. 陆军军医大学学报, 2010,32(2):127-130.

GONG TING, LI FEN, HUANG HUI, et al. Relationship of maternal and child polymorphism in methionine synthetase and methionine synthase reductase with congenital heart disease. [J]. Journal of army medical university, 2010, 32(2): 127-130.
宫婷, 李芬, Huang Hui, 等. MTR、MTRR基因多态性与先天性心脏病的相关性研究[J]. 陆军军医大学学报, 2010,32(2):127-130. DOI：

GONG TING, LI FEN, HUANG HUI, et al. Relationship of maternal and child polymorphism in methionine synthetase and methionine synthase reductase with congenital heart disease. [J]. Journal of army medical university, 2010, 32(2): 127-130. DOI：

摘要

目的分析母子甲硫氨酸合成酶(methionine synthetas， MTR)、甲硫氨酸合成还原酶(methionine synthase reductase， MTRR)基因突变与子代先天性心脏病（congenital heart disease

CHD）发生的相关性，进一步探讨CHD的发生机制。方法通过母子配对，采取病例对照方式，选择CHD患儿及其母亲60对，正常儿童及其母亲60对，采用聚合酶链反应限制性片段长度多态性（PCR-RFLP）方法检测MTR 2 756位点以及MTRR 66位点的基因型，分析基因变异与CHD发生的相关性。结果 ①子代及母亲CHD病例组与对照组MTR基因2 756位点基因型频率分布及等位基因频率差异均无统计学意义（

>0.05）。②CHD患儿与对照儿童的MTRR 66基因型分布比较以及患儿母亲与对照组母亲基因型分布比较，差异有统计学意义(

0.05)，2组等位基因频率比较，子代之间差异无统计学意义（

>0.05），但母亲之间差异有统计学意义(

0.01)。③儿童与母亲MTR 2 756 和MTRR 66位点基因型之间的差异无统计学意义（

>0.05）。④MTRR和MTR位点均发生基因变异时，病例组患儿母亲与对照组患儿母亲之间差异有统计学意义(

0.05)。结论儿童MTRR基因66位点的变异会增加其发生CHD的风险，母亲MTRR基因66位点的变异会显著增加其子代发生CHD的风险；母亲具有MTRR和MTR联合变异者，其子代发生CHD的风险会增高。

Abstract

Objective To explore the relationship of the genetic polymorphisms in methionine synthetase (MTR) and methionine synthase reductase (MTRR) with the risk of congenital heart disease (CHD) in order to investigate the occurrence mechanism of CHD and provide the theory and experimental found

ation for the early diagnosis and prevention of CHD. Methods Totally 60 CHD children

60 matched normal children and all of their mothers were enrolled in this study after the informed consent were signed and the protocol was approved by the Ethics Committee of our university. MTR and MTRR genotypes were analyzed by using PCR-RFLP amplification and polyacrylamide gel electrophoresis (PAGE). Results ①There was no significant difference in MTR gene A2 756G mutation allele frequency (

>0.05) and the various genes frequency (

>0.05) between the experiment and control group. ②It was obvious difference between CHD experiment and control group of mothers in MTRR gene A66G mutation allele frequency (

0.05)

and AA and AG of children and mothers also had obvious difference (

0.05). ③There was no significant correlation of MTR gene 2 756 and MTRR 66 genotypes between children and mothers (

>0.05). ④The percents of mothers with MTR and MTRR gene polymorphisms in case were significantly higher than those in control (

0.05). Conclusion MTRR gene mutation allele is related to CHD

and AG mutation in mother increases the risk of CHD in offspring. Mothers with MTR and MTRR gene polymorphisms increase the risk of CHD in offspring.

关键词

先天性心脏病危险因素甲硫氨酸合成酶甲硫氨酸合成还原酶基因多态性

Keywords

congenital heart diseaserisk factormethionine synthetasemethionine synthase reductasegene polymorphisms

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