title: [Advances in the study of the etiologic relationship between reduced folate carrier gene (RFC1) and neural tube and craniofacial defects].
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 periconceptional 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 facilitates 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.
authors.affiliation: Institute of Reproductive and Child Health of Peking University, National Reference Laboratory on Reproductive Health, Research Ministry of Health, Beijing 100 083, China.
authors.forename: Li-Jun
authors.initials: LJ
authors.lastname: Pei
authors.forename: Zhu
authors.initials: Z
authors.lastname: Li
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000378:metabolism / Q000517:prevention & control; D058973:Folate Receptors, GPI-Anchored; D005492:Folic Acid / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D026901:Membrane Transport Proteins / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D009436:Neural Tube Defects / Q000235:genetics* / Q000378:metabolism / Q000517:prevention & control; D011110:Polymorphism, Genetic; D011956:Receptors, Cell Surface / Q000235:genetics; D058978:Reduced Folate Carrier Protein
chemical_list: D002352:Carrier Proteins; D058973:Folate Receptors, GPI-Anchored; D026901:Membrane Transport Proteins; D011956:Receptors, Cell Surface; D058978:Reduced Folate Carrier Protein; C548699:SLC19A1 protein, human; D005492:Folic Acid