叶酸代谢关键酶基因多态性与非综合征性唇腭裂相关性研究进展.pdf

• 310 • 医学研究生学报 2017 年 3 月第 30 卷第 3 期 J Med V〇1.30, No .3, March , 2017 综 述 叶酸代谢关键酶基因多态性与非综合征性唇腭裂 相关性研究进展 姚 涛 综述，李 三 华 ，宋 庆 高审校 [ 摘 要 ] 非综合征性唇腭裂 （ nonsyndromic cleft of lip with or without palate, NSCL/P )是新生儿颌面部最常见的先天性出 生缺陷之一 , 与遗传因素和多种环境有关。叶酸缺乏、代谢紊乱及介导其代谢的关键酶基因的多态性可能是导致 N S C 1 /P 的 重要因素，母体孕期摄人叶酸可降低 N S C 1 /P 的患病风险。本文就叶酸代谢及介导其代谢的关键酶基因的多态性与 NSC1/P 的相关性进行综述。 [ 关 键词 ] 非综合征性唇腭裂 ; 叶酸代谢 ;关键酶;基因多态性 [ 中图分类号] R782. 2 [ 文献标志码 ] A [ 文章编号 ] 1008-8199(2017)03-0310-05 [D O I] 10.16571/j.cnki.l008-8199.2017.03.019 The relationship between genetic polymorphisms of key enzymes in folate metabolism and nonsyndromic cleft of lip with or without palate YAO Tao1 r e v i e w i n g , LI San-hua2, SONG Qing-gao1 c h e c k i n g {1. D e p a r t m e n t o f O r a l a n d M a x i l l o f a c i a l S u r g e r y y A f f i l i a t e d S t o m a t o l o g i c a l H o s p i t a l o f Z u n y i M e d i c a l U n i v e r s i t y , Z u n y i 563003, G u i z h o u , C h i n a ； 2. R e s e a r c h C e n t e r f o r M e d i c i n e a n d B i o l o g y , Z u n y i M e d i c a l U n i v e r s i t y , Z u n y i 563003, G u i z h o u , C h i n a ) [ Abstract ] Nonsyndromic cleft of lip with or without palate (N SC L/P) is one of the most common congenital birth defects in the maxillofacial region and it is related to genetic factors and environment. Folic acid deficiency, metabolic disorder and the genetic polymorphisms of key metabolic enzymes may be the important factors contributing to NSCL/P. Maternal folic acid intake may reduce the risk of non syndrome cleft lip and palate. This article will review the relationship among the metabolism of folic acid, the genetic polymorphisms of key enzymes in