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首页> 外文期刊>Indian journal of clinical biochemistry >Polymorphism (C677T) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene: A preliminary study on north Indian men
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Polymorphism (C677T) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene: A preliminary study on north Indian men

机译:5,10-亚甲基四氢叶酸还原酶(MTHFR)基因中的多态性(C677T):对北印度男人的初步研究

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摘要

An elevated level of plasma homocysteine, sulfur containing amino acid generated through demethylation of methionine has been widely accepted as a risk factor for cardiovascular disease (CVD). The increase can result from genetic and/or nutrient related disturbances in the remethylation or transsulfuration pathways for homocysteine metabolism. A common mutation (C677T) in the gene encoding for the enzyme 5, 10-methylenetetrahydrofolate reductase (MTHFR) or deficiency of the B vitamins namely folic acid, B12, B6 can lead to hyperhomocysteinemia.
机译:血浆高半胱氨酸,通过蛋氨酸脱甲基产生的含硫氨基酸水平升高,已被广泛认为是心血管疾病(CVD)的危险因素。增加可能是由于高半胱氨酸代谢的再甲基化或转硫途径中与遗传和/或营养有关的紊乱引起的。编码酶5、10-亚甲基四氢叶酸还原酶(MTHFR)的基因中的常见突变(C677T)或缺乏B维生素(即叶酸B12,B6)会导致高同型半胱氨酸血症。

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