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  

Correlation of homocysteine and folic acid with MTHFR polymorphism in the preconceptional women

作　　者：林宁[1] 官燮 石慧[1] 王丽娟[1] 黄丽丽 陈伟[1] 姜志欣[1] 吴玉璘[1] 许豪勤 岳平 孙晓如[1] 

机构地区：[1]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,江苏南京210036 [2]重庆市人口和计划生育科学技术研究院,重庆400020

出　　处：《南京医科大学学报（自然科学版）》2017年第10期1293-1296,共4页Journal of Nanjing Medical University(Natural Sciences)

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)

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。Objective：To evaluate the relationship between the polymorphism of MTHFR gene and the level of folic acid and homocysteine in the preconceptional women of Jiangsu Province. Methods： A total of 915 preconceptional women were recruited. The mutations of MTHFR rs1801131 and rs1801133 reported associated with congenital heart disease susceptibility were genotyped and the levels of homocysteine （HCY） and folic acid （FA） in peripheral blood were detected. Results：Among 915 women, the rate of homozygous mutation and heterozygous mutation of rs1801131 and rs1801133 were 3.39%, 28.74% and 20.55%, 48.20%, respectively. There were significant differences in the level of HCY and FA among rs1801133 CC, CT and TT genotypes. In TT group, HCY was higher than that of CC and CT group, but folic acid was lower than that of CC group. HCY level of compound mutant individuals rs1801131 AC and rs1801133TT was significantly higher than that of the individuals both with rs1801131AC and rs1801133CC or CT. Conclusion：It is found that there is a correlation between the concentration of FA and HCY in peripheral blood and the polymorphisms of MTHFR gene which is associated with congenital heart disease. Therefore, for preventing congenital heart disease that might emerge from the genetic polymorphisms, it is expected to help guidance of FA supplementation in preconceptional and early-pregnancy health care that understanding the mutations of MTHFR gene, and their correlation between the concentration of HCY and FA of preconceptional women.

关 键 词：MTHFR基因多态性 同型半胱氨酸 叶酸 孕前女性 

分 类 号：R715.3[医药卫生—妇产科学]