21号染色体非整倍体有核细胞中超氧化物歧化酶-1的剂量效应。
Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21.
作者信息
Feaster W W, Kwok L W, Epstein C J
出版信息
Am J Hum Genet. 1977 Nov;29(6):563-70.
Abstract
Assays of the activity of chromosome 21 determined superoxide dismutase-1 (SOD-1) in lymphocytes and polymorphonuclear granulocytes have demonstrated 38% and 40% increases, respectively, in cells from individuals with trisomy 21. Similarly, SOD-1 activity in trisomic fibroblasts is increased by 81%, while cells monosomic for chromosome 21 have only 60% of normal activity. Taken together with the data on SOD-1 activities in trisomic erythrocytes and platelets, the present results firmly confirm the existence of a true dosage effect for this enzyme in cells aneuploid for chromosome 21. However, the results of assays of the activity of glutathione peroxidase in trisomic fibroblasts did not confirm the possibility previously reported of a chromosome 21 related dosage effect for this enzyme.
摘要
对21号染色体活性的检测在淋巴细胞和多形核粒细胞中测定超氧化物歧化酶-1（SOD-1），结果显示21三体个体的细胞中该酶活性分别增加了38%和40%。同样，三体成纤维细胞中的SOD-1活性增加了81%，而21号染色体单体细胞的活性仅为正常活性的60%。结合三体红细胞和血小板中SOD-1活性的数据，目前的结果有力地证实了在21号染色体非整倍体细胞中该酶存在真正的剂量效应。然而，三体成纤维细胞中谷胱甘肽过氧化物酶活性的检测结果并未证实先前报道的该酶存在与21号染色体相关的剂量效应的可能性。
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