Advances in the Study of the Etiologic Relationship between Reduced Folate Carrier Gene (RFC1) and Neural Tube and Craniofacial Defects
还原叶酸载体基因（RFC1）与神经管和颅面畸形病因学关系的研究进展 Advances in the Study of the Etiologic Relationship between Reduced Folate Carrier Gene(RFC1) and Neural Tube and Craniofacial Defects

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 reduction 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 folate - related pathways of neural tube and craniofacial defects.