Ring Chromosome 21 and SOD Activity of Blood Cells |
| |
| Authors: | T. AOKI K. YOSHIMITSU M. ITODAGAWA H. OKAZAKI T. SUGIMOTO Y. KOBAYASHI |
| |
| Affiliation: | Department of Pediatrics, Kansai Medical University, Osaka;The Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan |
| |
| Abstract: | ABSTRACT. A female infant was found to have an abnormal karyotype with mosaicism: 45,XX,-21/ 46,XX,r(21) (pll.2 q22.3). She showed a slightly decreased level of superoxide dismutase (SOD) activity in erythrocytes, polymorphonuclear and mononuclear leukocytes. The cupro-zinc SOD (SOD-1) activity of leukocytes was 70-80% of normal level, while their manganese SOD (SOD-2) activity was within the normal range. The relationship between the chromosomal aberration and the SOD activity is discussed in relation to the gene dosage effect. |
| |
| Keywords: | gene dosage effect ring chromosome 21 SOD-1 SOD-2 |
|
|
