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亚甲基四氢叶酸还原酶基因多态性的研究进展

Yinyin Wei,Xiangxia Miao,Bo Hao,Yali Min,Kaige Liu

International Journal of Genetics（2018）

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Abstract
亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)是甲硫氨酸-叶酸代谢中的关键酶,其基因的多态性导致叶酸、同型半胱氨酸代谢障碍,嘌呤、嘧啶合成障碍以及DNA、RNA、蛋白质甲基化降低,进而影响细胞增殖、组织生长.C677T是MTHFR最常见的突变位点,MTHFR C677T基因多态性常被认为与多种疾病的发生有关.因此,本文就MTHFR C677T基因多态性与疾病关系的进展进行综述.
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Key words
Methylenetetrahydrofolate reductase,Folic acid,Homocysteine,Gene polymorphism
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