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亚甲基四氢叶酸还原酶基因多态性与出生缺陷 被引量:6

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摘要 亚甲基四氢叶酸还原酶(MTHFR)基因多态性特别是677C→T突变可导致MTHFR酶活性下降,进一步造成叶酸代谢障碍和血浆同型半胱氨酸增高,被认为是引起神经管缺陷(NTD)、Down综合征、唇腭裂等多种出生缺陷的高危遗传因素,妊娠前及妊娠期补充叶酸是预防上述出生缺陷发生的有效措施。
出处 《国外医学(计划生育分册)》 2005年第1期39-41,共3页
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