title: Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.
abstract: Folic acid supplementation can reduce the incidence of neural tube defects. The first reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect.
authors.affiliation: Department of Pediatrics, Neonatology Section, University of Puerto Rico School of Medicine, San Juan 00936-5067, USA. loufrag@yahoo.com
authors.forename: Lourdes
authors.initials: L
authors.lastname: García-Fragoso
authors.forename: Inés
authors.initials: I
authors.lastname: García-García
authors.forename: Alberto
authors.initials: A
authors.lastname: de la Vega
authors.forename: Jessicca
authors.initials: J
authors.lastname: Renta
authors.forename: Carmen L
authors.initials: CL
authors.lastname: Cadilla
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006630:Hispanic or Latino / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009436:Neural Tube Defects / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D014633:Valine / Q000235:genetics
chemical_list: D008754:Methylenetetrahydrofolate Dehydrogenase (NADP); D014633:Valine; D000409:Alanine