婚前保健中孕前女性叶酸代谢酶基因多态性分析  

Analysis of genetic polymorphism of folate metabolizing enzyme in pre-pregnancy women in premarital health care

作　　者：史卿菁 丁旭锋 吴丽萍 Shi Qingjing;Ding Xufeng;Wu Liping(Department of Reproductive Health, Yixing Maternal and Child Health Hospital, Yixing, Jiangsu 214200)

机构地区：[1]江苏省宜兴市妇幼保健院生殖健康科,江苏宜兴214200

出　　处：《中外女性健康研究》2020年第17期51-52,共2页Women＇s Health Research

摘　　要：目的:分析婚前保健对象中孕前女性叶酸代谢通路中相关酶的基因多态性,根据其基因多态性对个体叶酸代谢能力进行风险方面的评估,并依据得到的结果对育龄期女性服用叶酸进行个体化引导。方法:选取2018年5月至2019年4月来宜兴市妇幼保健院行孕前保健的女性169例,采集研究对象口腔黏膜上皮细胞,采用荧光定量PCR检测方法测定5,10-亚甲基四氢叶酸还原酶(MTHFR)C667T、A1298C位点和甲硫氨酸合酶还原酶(MTRR)A66G位点的基因型,根据基因多态性将其分为高度风险、中度风险、低度风险、未发现风险四个级别。结果:本地区孕前女性MTHFR C667T位点CC型、CT型、TT型的检出频率为30.17%、51.47%、18.34%;MTHFR A1298C位点AA型、AC型、CC型的检出频率为73.37%、25.44%、1.18%;MTRR A66G位点AA型、AG型、GG型的检出频率为62.13%、29.58%、8.28%。叶酸代谢能力高度风险占18.34%,中度风险占31.36%,低度风险占8.87%,未发现风险占41.42%。结论:婚前保健孕前女性中有将近50%存在叶酸代谢中、高度风险,应根据其叶酸代谢风险程度合理个体化服用叶酸。Objective:To analyze the genetic polymorphisms of related enzymes in the folate metabolic pathway of pre-pregnancy women in pre-marital health care subjects,to evaluate the risk of individual folate metabolic ability according to their genetic polymorphisms,and to individually guide women of childbearing age to take folic acid according to the obtained results.Methods:169 women who received pregnant care in Yixing Maternal and Child Health Hospital from May 2018 to April 2019 were selected.Oral mucosal epithelial cells of the study subjects were collected and the 5,10-methylenetetrahydrofolate reductase(MTHFR)C667T,A1298C sites and methionine synthase reductase(MTRR)A66G were determined by fluorescence quantitative PCR.Genotypes of loci were classified into four levels:high risk,moderate risk,low risk and no risk according to gene polymorphism.Results:The detection frequencies of CC,CT and TT at MTHFR C667T locus were 30.17%,51.47%and 18.34%in pre-pregnancy women in this region;the detection frequencies of AA,AC and CC at MTHFR A1298C locus were 73.37%,25.44%and 1.18%;the detection frequencies of AA,AG and GG at MTRR A66G locus were 62.13%,29.58%and 8.28%.The high risk,moderate risk,low risk and undetected risk accounted for 18.34%,31.36%,8.87%and 41.42%respectively.Conclusion:Nearly 50%of pre-pregnancy women in pre-marital health care have moderate and high risk of folic acid metabolism,which should be rationally individualized according to the degree of risk of folic acid metabolism.

关 键 词：孕前妇女 叶酸 5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合酶还原酶 基因多态性 叶酸过量 

分 类 号：R73[医药卫生—肿瘤]