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亚甲基四氢叶酸还原酶基因多态性与脑性瘫痪 被引量：3

Methylenetetrahydrofolate Reductase Gene Polymorphisms and Cerebral Palsy
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摘要 亚甲基四氢叶酸还原酶(MTHFR)在调节血浆同型半胱氨酸水平和DNA甲基化中起重要作用,MTHFR基因突变可引起酶活性减低,使血浆同型半胱氨酸水平升高及DNA甲基化异常。研究发现MTHFR基因多态性与遗传性易栓症相关,可能引起包括脑性瘫痪在内的不良妊娠结局。 Methylenetetrahydrofolate reductase（MTHFR） plays an important role in modulation of plasma homocysteine and DNA methylation.MTHFR gene mutation results in decreased MTHFR activity,which leads to elevation of plasma homocysteine status and aberrant DNA methylation.Some studies show that MTHFR gene polymorphisms are associated with inherited thrombophilia,which may result in adverse pregnancy outcomes such as cerebral palsy.
作者 程秀永
机构地区 上海交通大学医学院附属第三人民医院儿科
出处 《实用儿科临床杂志》 CAS CSCD 北大核心 2012年第6期452-455,共4页 Journal of Applied Clinical Pediatrics
关键词 亚甲基四氢叶酸还原酶 单核苷酸多态性 脑性瘫痪 methylenetetrahydrofolate reductase single nucleotide polymorphisms cerebral palsy
分类号 R742.3 [医药卫生—神经病学与精神病学]
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参考文献32

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二级参考文献32

共引文献29

同被引文献56

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实用儿科临床杂志
2012年 第6期

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