Dosage effect of SOD-A gene in 21-trisomic cells

Hum Genet. 1976 Feb 29;31(2):197-202. doi: 10.1007/BF00296146.

Abstract

SOD-A activity was measured by the polarographic method of catalytic currents in 30 subjects 10-24 years of age with a karyotype 47, + 21, and 30 age matched normal subjects. The ratio of the average amount of SOD-A in 21-trisomic cells to the average amount in normal cells is 1.4495. Statistical analysis confirms that this ratio does not differ significantly from the ratio 1.5 expected in the case of a simple gene dosage effect.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosomes, Human, 21-22 and Y
  • Down Syndrome / enzymology*
  • Down Syndrome / genetics
  • Genes
  • Humans
  • Phenotype
  • Superoxide Dismutase / analysis*

Substances

  • Superoxide Dismutase