孕前女性人群中MTHFR基因多态性与叶酸、同型半胱氨酸的相关性

发布时间：2018-03-03 16:16

本文选题：MTHFR基因多态性　切入点：同型半胱氨酸　出处：《南京医科大学学报(自然科学版)》2017年10期 　论文类型：期刊论文

【摘要】：目的 :探讨江苏孕前优生健康检查女性人群中MTHFR基因多态性及其与叶酸(FA)、同型半胱氨酸(HCY)之间的关系。方法:选取江苏部分地区参加孕前优生健康检查妇女共915例,检测外周全血MTHFR基因中与子代先心病发病相关的rs1801131、rs1801133两个位点的突变情况;并检测外周血中HCY浓度和FA水平。结果 :915例中,rs1801131纯合突变(CC型)为3.39%、杂合突变(AC型)为28.74%;rs1801133纯合突变(TT型)20.55%、杂合突变(CT型)48.20%。rs1801133位点中,野生型和纯合、杂合突变基因3组之间HCY和FA的差异均有统计学意义;TT组HCY高于CC、CT组,TT组FA低于CC组。rs1801131AC与rs1801133TT基因组合的复合突变个体HCY水平明显高于rs1801131AC与rs1801133CC、CT两个基因组合。结论:与先心病相关的MTHFR基因两个位点的多态性与外周血中HCY、FA的浓度之间有相关性。因此,掌握备孕女性MTHFR基因位点的突变情况,可以有针对性地实施孕前和孕早期FA增补方案,从而预防可能因有关基因多态性而发生的先天性心脏病。
[Abstract]:Objective: To investigate the MTHFR Jiangsu pre pregnancy health examination women gene polymorphism and folic acid (FA), homocysteine (HCY). Methods: the relationship between parts of Jiangsu to participate in the pre pregnancy examination of a total of 915 Cases of women, the detection of peripheral blood MTHFR gene in offspring with CHD associated rs1801131 rs1801133, the mutation of the two sites; and the detection of peripheral blood HCY concentration and FA level. Results: in 915 Cases, rs1801131 homozygous mutation (CC) was 3.39%, heterozygous mutation (AC) was 28.74%; rs1801133 homozygous mutation (TT type) 20.55%, heterozygous mutation (type CT) 48.20%.rs1801133 loci, wild-type and homozygous, heterozygous mutation gene between the 3 groups HCY and FA had significant differences; TT group HCY was higher than CC, CT group, TT group, FA group and.Rs1801131AC CC lower than rs1801133TT gene compound mutation of HCY was significantly higher than rs1801131 AC and rs1801133CC, CT two gene combinations. Conclusion: MTHFR gene associated with congenital heart disease two polymorphism and HCY in peripheral blood, there is a correlation between the concentration of FA. Therefore, mastering the mutation of MTHFR gene by pregnant women, can have on the early FA before pregnancy and pregnancy to supplement plan the implementation, in order to prevent congenital heart disease may be due to the gene polymorphism.

【作者单位】：江苏省生殖健康检验中心江苏省计划生育科学技术研究所;重庆市人口和计划生育科学技术研究院;
【基金】：重庆市基本科研业务费资助(2015cstc-jbky-01718) 重庆市出生缺陷与生殖健康重点实验室科研项目(2015-02) 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)
【分类号】：R169.1

【相似文献】