Methylenetetrahydrofolate reductase (MTHFR). Incidence of the C677T mutation in a Siberian female population

Anthropol Anz. 2001 Mar;59(1):19-25.

Abstract

We have studied the distribution of genotypes of the MTHFR gene among the Siberian female population and compared it with the frequency of this mutation in different populations. The TT genotype and the T allele frequency in 299 women from Novosibirsk (West Siberia) was determined. The presence of the C677T allele was determined by PCR and Hinf I digestion. The homozygous genotype TT was detected in 8.69% of the population sample. The frequency of the C677T mutant allele was found to be 0.290.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Arteriosclerosis / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics
  • Genetics, Population*
  • Genotype
  • Humans
  • Hyperhomocysteinemia / genetics
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Mutation / genetics*
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Polymorphism, Genetic / genetics
  • Siberia

Substances

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