title: Molecular genetic analysis of human folate receptors in neural tube defects.
abstract: Neural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70-100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C-->T and the 1298 A-->C mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron-exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-alpha) gene or in the folate receptor beta (FR-beta) gene.
authors.affiliation: Department of Paediatrics, University Hospital Nijmegen, The Netherlands.
authors.forename: S G
authors.initials: SG
authors.lastname: Heil
authors.forename: N M
authors.initials: NM
authors.lastname: van der Put
authors.forename: F J
authors.initials: FJ
authors.lastname: Trijbels
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: H J
authors.initials: HJ
authors.lastname: Blom
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D058973:Folate Receptors, GPI-Anchored; D006801:Humans; D009436:Neural Tube Defects / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011956:Receptors, Cell Surface
chemical_list: D002352:Carrier Proteins; D058973:Folate Receptors, GPI-Anchored; D011956:Receptors, Cell Surface