Molecular genetic analysis of human folate receptors in neural tube defects

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.