| 石 慧,姜志欣,王丽娟,黄丽丽,陈 伟,孙晓如,林 宁.备孕二胎女性人群中MTHFR基因多态性及相关环境因素的调查分析[J].,2017,17(32):6295-6298 |
| 备孕二胎女性人群中MTHFR基因多态性及相关环境因素的调查分析 |
| Investigation and Analysis of MTHFR Polymorphism and Related Environmental Factors in Female Population Preparing a Second Child |
| 投稿时间：2017-06-28 修订日期：2017-07-23 |
| DOI：10.13241/j.cnki.pmb.2017.32.020 |
| 中文关键词: 备孕二胎 MTHFR基因多态性 一级预防 |
| 英文关键词: Preparing a second child MTHFR gene polymorphisms Primary prevention |
| 基金项目:江苏省卫计委科研项目（Z2015-07)；江苏省卫计委妇幼项目(F201501)；江苏省科技厅计划(BM2015020,2015020-2) |
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| 中文摘要: |
| 摘要 目的：调查评估备孕二胎女性人群中MTHFR基因多态性及其生活习惯、一胎孕期情况等相关环境因素，以发挥孕前检查在子代先心病一级预防中的作用。方法：选取江苏部分地区参加备孕二胎优生健康检查妇女共402名进行问卷调查，并检测外周血中MTHFR基因rs1801131、rs1801133两个位点的突变情况。结果：收回有效问卷389份，其中备孕二胎女性平均年龄为27.04±2.68，最大43岁，最小19岁。MTHFR rs1801131纯合突变(CC型)为3.5%、杂合突变(AC型)为29.1%；rs1801133纯合突变(TT型)22.9%、杂合突变(CT型)48.5%；rs1801131、rs1801133双杂合突变为16.7%。结论：备孕二胎女性人群中存在一定的先心病环境危险因素暴露和MTHFR相关位点基因多态性。加强女性孕前保健，为高危人群制定个性化叶酸增补方案并降低先心病危险因素的暴露，从而做好出生缺陷一级预防，提高出生人口质量。 |
| 英文摘要: |
| ABSTRACT Objective: Assessing the MTHFR polymorphisms and the related environmental factors in female population who are preparing a second child, to realize the role of preconceptional examination in primary prevention of congenital heart disease. Methods: A total of 402 women under preconceptional examination from selected parts of Jiangsu Province were recruited. The questionnaires were conducted and the mutations of MTHFR rs1801131 and rs1801133 were genotyped in peripheral blood. Results: A total of 389 valid questionnaires were received. The average age of preconceptional women was 27.04±2.68 with a maximum of 43 years and a minimum of 19 years. The rate of homozygous and heterozygous mutation of rs1801131 and rs1801133 were 3.5%, 29.1% and 22.9%, 48.5% respectively. The heterozygous mutation both of rs1801131 and rs1801133 was 16.7%. Conclusion: There were some environmental risk factors of congenital heart disease and MTHFR related loci polymorphisms in the preconceptional women. We should pay attention to preconceptional health care, making personalized folic acid supplementation for high-risk groups and reducing the risk factors of congenital heart disease to make primary prevention of birth defects and improve the quality of the birth population. |
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