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Ring Chromosome 21 and SOD Activity of Blood Cells
Author(s) -
AOKI T.,
YOSHIMITSU K.,
ITODAGAWA M.,
OKAZAKI H.,
SUGIMOTO T.,
KOBAYASHI Y.
Publication year - 1986
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1986.tb10343.x
Subject(s) - superoxide dismutase , karyotype , medicine , ring chromosome , peripheral blood mononuclear cell , chromosome , microbiology and biotechnology , gene , endocrinology , andrology , biochemistry , biology , oxidative stress , in vitro
. 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.