RFC - 1 Gene Polymorphism and the Risk of Down Syndrome in Romanian Population.

BACKGROUND AND AIMS There is evidence that the polymorphisms of the genes involved in folate metabolism may be associated with higher risk of Down syndrome (DS) pregnancy. The aim of the present study was to investigate the effect of A80G polymorphism in reduced folate carrier 1 (RFC1) gene on the maternal risk for DS. METHODS In our study, twenty-two DS mothers and forty-two mothers who had no children with DS were evaluated. Genomic DNA was isolated from whole peripheral blood collected on EDTA, using peqGOLD blood DNA mini kit (ATP Biotech) following the manufacturer's instructions. RESULTS The results show that the frequencies of RFC1 alleles, as well as the frequencies of RFC1 A80G genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups. CONCLUSIONS In the present study, we did not find any statistically significant association between RFC-1 polymorphic genotype and history of DS pregnancies; thus, the relationship between RFC-1 polymorphism and DS appears to be only a supposition and the next step in our study is the catamnestic evaluation of our patients with DS babies for two years.