叶酸代谢相关酶MTHFR、MTRR基因多态性与不良孕产史的关系  

Relationship of the folate metabolism related gene polymorphisms of MTHFR and MTRR with abnormal pregnancy history

作　　者：赵雪杰 李晓娜 孙茗 张璐[1] 陈派强 吕毅[1] ZHAO Xuejie;LI Xiaona;SUN Ming;ZHANG Lu;CHEN Paiqiang;LYU Yi(Clinical Laboratory Medicine Center,Zhengzhou Yihe Hospital Affiliated toHenan University,Zhengzhou,Henan 450047,China)

机构地区：[1]河南大学附属郑州颐和医院检验医学中心

出　　处：《检验医学与临床》2019年第19期2761-2763,共3页Laboratory Medicine and Clinic

基　　金：河南省科技攻关项目(20160235)

摘　　要：目的探讨育龄期女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G基因多态性与不良孕产史的关系。方法选取201例有不良孕产史的女性纳入不良孕产史组,321例无不良孕产史女性纳入对照组,采集所有研究对象外周静脉血标本,提取DNA,采用测序技术对MTHFR基因C677T、A1298C位点和MTRR基因A66G位点的多态性进行检测。结果不良孕产史组MTHFR基因C677T位点的TT突变纯合型、A1298C位点的CC突变纯合型基因频率均高于对照组,差异有统计学意义(χ^2=13.00、5.09,P<0.05);不良孕产史组MTHFR基因C677T位点、A1298C位点和MTRR基因A66G位点的野生纯合型基因频率均低于对照组(χ^2=4.42、5.83、4.15,P<0.05)。结论叶酸代谢相关酶MTHFR基因C677T位点、A1298C位点的突变纯合型可能会增加不良孕产发生的风险。Objective To investigate the relationship between methylenetetrahydrofolate reductase(MTHFR)C677T,A1298C and methionine synthase reductase(MTRR)A66G gene polymorphisms of childbearing age women with abnormal pregnancy occurrence.Methods A total of 201 women with abnormal pregnancy history(abnormal pregnancy histroy group)and 321 women without abnormal pregnancy history(control group)were included in this study.The peripheral venous blood were collected for extracting genomic DNA.The gene sequencing technique was used to detect gene polymorphism of MTHFR C677T and A1298C and MTRR A66G.Results The frequencies of MTHFR 677T TT and 1298C CC homozygous mutation in the abnormal pregnancy history group were statistically significantly higher than those in the control group(χ^2=13.00,5.09,P<0.05).The frequencies of MTHFR C677T,A1298C and MTRR A66G homozygous wild-type in the abnormal pregnancy history group were statistically significantly lower than those in the control group(χ^2=4.42,5.83,4.15,P<0.05).Conclusion The homozygous mutation of the folate metabolism related gene MTHFR C677T,MTHFR A1298C might related to the increased risk of abnormal pregnancy occurrence.

关 键 词：亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 基因多态性 不良孕产史 

分 类 号：R714.2[医药卫生—妇产科学] R446.9[医药卫生—临床医学]