Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

Hum Genet. 1997 Oct;100(5-6):512-4. doi: 10.1007/s004390050544.

Abstract

We report the analysis of the distribution of the C677T mutation on the methylenetetrahydrofolate reductase (MTHFR) gene in prenatally diagnosed neural tube defects (NTD) cases and controls. In contrast to previous reports, we found the same distribution in fetuses with NTD and controls, which suggests that the MTHFR C677T mutation cannot be regarded as a genetic risk factor for NTD.

MeSH terms

  • Anencephaly / diagnosis
  • Anencephaly / enzymology
  • Anencephaly / genetics*
  • Case-Control Studies
  • Fetus
  • France
  • Gene Frequency
  • Genotype
  • Humans
  • Meningomyelocele / diagnosis
  • Meningomyelocele / enzymology
  • Meningomyelocele / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Point Mutation / genetics*
  • Prenatal Diagnosis
  • Retrospective Studies

Substances

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