Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome

Pediatr Res. 2002 Jun;51(6):766-7. doi: 10.1203/00006450-200206000-00018.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Down Syndrome / etiology*
  • Down Syndrome / genetics*
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Polymorphism, Genetic*
  • Pregnancy

Substances

  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)