title: Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome.
abstract: A methylenetetrahydrofolate reductase polymorphism (677 C/T mutation) was recently implicated in the etiology of Down syndrome. We studied a cohort of 85 women carrying fetuses with Down syndrome and found no difference in the frequencies of the three groups of subjects (C/C, C/T, T/T) between Down syndrome mothers and controls.
authors.affiliation: Laboratoire de Biochimie, UMR CNRS 8602, Hôpital Necker- Enfants Malades, 75743 Paris Cedex 15, France.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Chadefaux-Vekemans
authors.forename: Marie
authors.initials: M
authors.lastname: Coudé
authors.forename: François
authors.initials: F
authors.lastname: Muller
authors.forename: Jean François
authors.initials: JF
authors.lastname: Oury
authors.forename: Allel
authors.initials: A
authors.lastname: Chabli
authors.forename: Jean
authors.initials: J
authors.lastname: Jaïs
authors.forename: Pierre
authors.initials: P
authors.lastname: Kamoun
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004314:Down Syndrome / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011110:Polymorphism, Genetic; D011247:Pregnancy
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)