亚甲基四氢叶酸还原酶多态性的临床应用研究进展  

Research Progress in Clinical Application of MTHFR Polymorphisms

作　　者：周佳菁[1] 袁箐 韩峻松[1] 王珂 徐祎春 ZHOU Jiajing;YUAN Qing;HAN Junsong;WANG Ke;XU Yichun(Shanghai Biochip Co.,Ltd.&National Engineering Center for Biochip at Shanghai,Shanghai 201203,China;Shanghai-MOST Key Laboratory of Health and Disease Genomics,Chinese National Human Genome Center at Shanghai,Shanghai 201203,China;Institute of Clinical Immunology,Yueyang Hospital of Integrated Tradi-tional Chinese and Western Medicine,Shanghai University of Traditional Chinese Medicine,Shanghai 200437,China)

机构地区：[1]上海生物芯片有限公司&生物芯片上海国家工程研究中心,上海201203 [2]上海人类基因组研究中心上海市疾病与健康基因组学实验室,上海201203 [3]上海中医药大学附属岳阳中西医结合医院临床免疫研究所,上海200437

出　　处：《医学综述》2018年第7期1266-1272,共7页Medical Recapitulate

基　　金：上海市自然科学基金(16ZR1424000);生物芯片上海国家工程研究中心研究基金(SBC201602)

摘　　要：叶酸属于B族维生素,是体内极为重要的甲基供体,参与DNA合成和修复,维持细胞内正常甲基化和基因组稳定性。叶酸主要存在于食物中,人体无法依靠自身合成。叶酸摄入不足或代谢障碍均会引起叶酸缺乏,进而引起各种疾病。亚甲基四氢叶酸还原酶(MTHFR)是叶酸代谢通路中的关键酶之一,其中位于MTHFR上的rs1801131和rs1801133的多态性与肿瘤的发生和用药、心脑血管疾病的发病风险、女性优生优育以及新生儿先天性缺陷等密切相关。Folic acid,as a member of vitamin B group,is a very important methyl donor in vivo.It participates in DNA synthesis and repair,maintaining the intracellular normal methylation and the genomic stability.Folic acid is primarily concentrated on the source of food whereas it cannot be synthesized by human body.Either inadequate intake or metabolic disorder will cause the lack of folic acid,even leading to a variety of diseases.5,10-methylenetetrahydrofolate reductase(MTHFR)is one of the key enzymes in folate metabolism.The polymorphism of rs1801131 and rs1801133,which locate on the gene of MTHFR,may be related to a variety of diseases,such as the risk and medication of tumor,the incidence of cardiovascular and cerebrovascular diseases,as well as women eugenics,congenital defects of the newborns,etc.

关 键 词：叶酸 不孕不育 肿瘤 亚甲基四氢叶酸还原酶 

分 类 号：Q755[生物学—分子生物学]