叶酸载体基因多态性与胎儿神经管缺陷

doi:10.12280/gjszjk.20210128

摘要/Abstract

摘要：

叶酸是一组水溶性维生素（维生素B₉）的天然存在形式,作为体内一碳单位转移酶系的辅酶,为体内甲基化反应和核酸合成提供重要原材料,其衍生物也是许多一碳单位转移反应的底物。叶酸的饮食来源包括绿叶蔬菜、豆类和强化谷物产品等。叶酸的生物利用度不仅取决于膳食摄入量,还取决于调节叶酸吸收和新陈代谢的细胞作用机制,以及叶酸代谢途径中关键载体的遗传多态性。鉴于相同饮食习惯的个体发生神经管缺陷（neural tube defect,NTD）的风险明显不同,相同叶酸浓度对红细胞的贡献也不同,因此,通过对叶酸吸收、转运的研究,从而认识并掌握NTD发生的机制变得越来越重要。叶酸载体基因是目前研究NTD发生机制的极佳候选基因,研究其多态性为科学地个体化补充易于吸收的叶酸提供依据。

关键词: 多态性,单核苷酸, 叶酸, 载体蛋白质类, 叶酸受体, 神经管缺损

Abstract:

Folic acid is the natural form of a group of water-soluble vitamins (vitamin B₉). As a coenzyme of a one-carbon unit transferase system, folic acid provides important raw materials for methylation and nucleic acid synthesis in vivo. Its derivatives are also the substrates of many one-carbon unit transfer reactions. Dietary sources of folic acid include leafy green vegetables, legumes and fortified cereal products. The bioavailability of folic acid depends not only on dietary intake but also on the cellular mechanisms that regulate folic acid absorption and metabolism, as well as the genetic polymorphism of key carriers in folic acid metabolic pathways. The risk of neural tube defect (NTD) is different among individuals with the same eating habits, and the contribution of the same folic acid concentration to red blood cells is also different. It is more and more important to understand the mechanism of NTD through the study of folic acid absorption and transport. The gene polymorphism of folic acid carrier is an excellent candidate for studying the mechanism of NTD, which provides a theoretical basis for a scientific and individual supplement of folic acid that is easy to absorb.

Key words: Polymorphism, single nucleotide, Folic acid, Carrier proteins, Folate receptor, Neural tube defects

裴娇娇, 谢江燕, 伍小莉. 叶酸载体基因多态性与胎儿神经管缺陷[J]. 国际生殖健康/计划生育, 2021, 40(6): 519-523.

PEI Jiao-jiao, XIE Jiang-yan, WU Xiao-li. Polymorphism of Folic Acid Carrier Gene and Fetal Neural Tube Malformation[J]. Journal of International Reproductive Health/Family Planning, 2021, 40(6): 519-523.

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