Catechol-o-methyltransferase activity in erythrocytes in Down's syndrome: family studies

Clin Genet. 1982 Jul;22(1):22-4. doi: 10.1111/j.1399-0004.1982.tb01405.x.

Abstract

Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three.

MeSH terms

  • Catechol O-Methyltransferase / blood*
  • Catechol O-Methyltransferase / genetics
  • Dopamine beta-Hydroxylase / blood
  • Down Syndrome / enzymology*
  • Erythrocytes / enzymology*
  • Humans

Substances

  • Dopamine beta-Hydroxylase
  • Catechol O-Methyltransferase