摘要： 神经管畸形和颅面畸形是最常见的出生缺陷，由遗传和环境因素共同作用所致，大规模的人群流行病学研究已证实，叶酸能降低发生这类畸形的危险。叶酸缺乏是神经管和颅面畸形发生的主要环境因素，但其机制尚不清楚，通过对与叶酸代谢有关的还原叶酸载体（reduced folate carrier,RFC）的生化特点、生理功能、还原叶酸载体基因（RFC1）结构功能、调控、表达及其与叶酸水平和神经管颅面畸形的关系等研究进展进行综述，从而为神经管和颅面畸形的病因学研究提出可能的候选基因。
Abstract: Neural tube and craniofacial defects are common birth defects which are ascribed to the combination of genetic and environmental factors. The population epidemiological studies suggested that periconceptional use of multivitamins containing folic acid can reduce a woman’s risk of having a child with neural tube and craniofacial defects. It’s a major environmental factor that periconceptinal women with deficiency of folic acid may increase their risk for delivering babies with neural tube and craniofacial defects, but the mechanism by which folic acid facilitated this risk rediction is unknown. This paper reviews folate transport carrier, Reduced Folate Carrier(RFC)’s characteristics in biological chemistry, physiological function, the folate transport mechanism, structure, function， regulation and expression of reduced folate carrier gene(RFC1), and the relationship between RFC1 with plasm or erythrocyte folate level and neural tube defects, et al. It is suggested a etiologic hypothesis in investigation of candidate gene encoding specific folat-related pathways of neural tube and craniofacial defects.