Article
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
American journal of medical genetics. Part A - 1 May 2006
Martínez-Frías María-Luisa, Pérez Belén, Desviat Lourdes R, Castro Margarita, Leal Fátima, Rodríguez Laura, Mansilla Elena, Martínez-Fernández María-Luisa, Bermejo Eva, Rodríguez-Pinilla Elvira, Prieto David, Ugarte Magdalena
Abstract excerpt
This study was aimed at analyzing the effect of mutations in three non-synonymous SNP genes (677C > T and 1298A > C of the methylenetetrahydrofolate reductase (MTHFR) gene, and 66A > G in the MTRR gene) on total plasmatic homocysteine (Hcy), in 91 mothers of Down syndrome (DS) infants and 90 control mothers. The comparison of both groups of mothers is a new way to determine if those mutations and their...
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