MTHFR、MTRR基因多态性与复发性流产相关性的研究进展

摘要/Abstract

摘要： 亚甲基四氢叶酸还原酶(Methylene tetrahydrofolate reductase，MTHFR) 与蛋氨酸合成酶还原酶（Methionine synthase reductase，MTRR）基因多态性成为遗传学关注的焦点。其中，MTHFR C677T、MTHFR A1298C和MTRR A66G是叶酸和同型半胱氨酸代谢通路中的关键酶，也是复发性流产的危险因素。有研究认为，同型半胱氨酸水平的升高是许多妊娠相关疾病发生的独立危险因素。MTHFR、MTRR基因和复发性流产密切相关，其基因多态性在不同种族以及不同地区的分布可能会导致与复发性流产之间的发病率存在差异。当前国内外对于MTHFR、MTRR基因多态性和同型半胱氨酸与复发性流产之间的关系尚不明确，本文从MTHFR、MTRR基因多态性与复发性流产的关系进行归纳和总结。

关键词: 复发性流产（RPL）, 亚甲基四氢叶酸还原酶(MTHFR), 蛋氨酸合成酶还原酶(MTRR), 基因多态性, 叶酸补充, 同型半胱氨酸（Hcy）

Abstract: Polymorphisms of methylene tetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes have been the focus of genetics .Among them， MTHFR C677T， A1298C and MTRR A66G are key enzymes in the folate and homocysteine metabolic pathways and risk factors for recurrent pregnancy loss.Studies have shown that elevated levels of homocysteine are independent risk factors for many pregnancy-related diseases. MTHFR， MTRR gene and recurrent abortion are closely related， and the distribution of genetic polymorphisms in different races and regions may lead to differences in incidence between recurrent abortion.Now， the relationship between MTHFR， MTRR gene polymorphism and homocysteine and recurrent abortion is still unclear at home and abroad. Therefore， this paper will concludeand summarize the relationship between MTHFR， MTRR gene polymorphism and recurrent abortion.

Key words: Recurrent pregnancy loss(RPL), Methylene tetrahydrofolate reductase(MTHFR), Methionine synthase reductase (MTRR), Genetic polymorphism, Folic acid supplement, Homocysteine (Hcy)

陶薇, 宋沧桑, 张阳, 宋文彬, 毛盼盼. MTHFR、MTRR基因多态性与复发性流产相关性的研究进展[J]. 中国药物评价, 2019, 36(5): 368-371.

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