title: [Dosage effect of the cytoplasmic superoxide dismutase (SOD-1) gene in the erythrocytes of Down's syndrome patients].
abstract: The activity of cytoplasmic superoxydase (SOD-1) was studied in erthrocytes of 17 patients affected with Down's syndrome (trisomy 21) and in 26 healthy persons. A 1.56-fold increase of the enzyme activity was observed in the group of patients as compared with the control group. This could be explained as the dosage effect of the corresponding gene located in the chromosome 21.
mesh_terms: D003593:Cytoplasm / Q000201:enzymology*; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D004789:Enzyme Activation; D004912:Erythrocytes / Q000201:enzymology*; D005796:Genes; D006801:Humans; D010641:Phenotype; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase
vernacular_title: Effekt dozy gena tsitoplazmaticheskoĭ superoksidismutazy (SOD-1) v éritrotsitakh bol'nykh s sindromon Dauna.