Summary
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.
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Beauchamp, C., Fridowich, I.: Superoxide dismutase: improved assay and an assay applicable to acrylamide gels. Analyt. Biochem. 44, 276 (1971)
Beutler, E., Yeh, M., Fairbanks, V. F.: The normal human female as a mosaic of X chromosome activity: studies using the gene for G-6-PD deficiency as a marker. Proc. nat. Acad. Sci. (Wash.) 48, 9 (1962)
Carlson, P. S.: Locating genetic loci with aneuploids. Molec. Gen. Genet. 114, 273 (1972)
Hodgetts, R. B.: The response of Dopa decarboxylase activity to variations in gene dosage in Drosophila: a possible location of the structural gene. Genetics 79, 45 (1975)
Krone, W., Wolf, V.: Chromosomes and protein variation. In: The biochemical genetics of man (eds. D. J. H. Brock, O. Mayo), p. 71. New York: Academic Press 1972
Lippitt, B., Fridowich, I.: Tetrazolium oxidase and superoxide dismutase: evidence for identity. Arch. Biochem. Biophys. 159, 738 (1973)
Lucchesi, J. C.: Dosage compensation in Drosophila. Ann. Rev. Genet. 7, 225 (1973)
Lyon, M. F.: Possible mechanism of X-chromosome inactivation. Nature (Lond.) New Biol. 232, 229 (1971)
Mangelsdorf, P. C., Fraps, G. S.: A direct quantitative relationship between vitamin A in corn and the number of genes for yellow pigmentation. Science 73, 241 (1931)
Ohno, S.: Sex chromosomes and sex-linked genes. Berlin-Heidelberg-New York: Springer 1967
Ohno, S.: Conservation of ancient linkage groups in evolution and some insight into the genetic regulatory mechanism of X-inactivation. Cold Spr. Harb. Symp. quant. Biol. 38, 155 (1974)
Rigo, A., Rotilio, G.: Simultaneous determination of superoxide dismutase and catalase in biological samples. Submitted for publication to Analyt. Biochem. (1975)
Rigo, A., Tomat, R., Rotilio, G.: Determination of the superoxide dismutase activity and rate constants by the polarographic catalytic currents method. J. Electronal. Chem. 57, 291 (1974)
Rigo, A., Viglino, P., Rotilio, G.: Polarographic determination of superoxide dismutase. Analyt. Biochem. (in press, 1975)
Robinson, A.: The assay of galactokinase and galactose-1-phosphate uridyltransferase activity on human erytrocytes. J. exp. Med. 118, 359 (1963)
Sichitiu, S., Sinet, P. M., Lejeune, J., Frézal, J.: Surdosage de la forme dimérique de l'indophénol-oxidase dans la trisomie 21, secondaire au surdosage génique. Humangenetik 23, 65 (1974)
Sinet, P.M., Allard, D., Lejeune, J., Jerome, H.: Augmentation d'activité de la superoxide dismutase érythrocytaire dans la trisomie pour le chromosome 21. C.R. Acad. Sci. (Paris) 278, sér. D 3267 (1974)
Sturtevant, A. H.: The effect of unequal crossing-over at the Bar locus in Drosophila. Genetics 10, 117 (1925)
Sturtevant, A. H., Beadle, G. W.: An introduction to genetics, p. 221. New York: Dower Publications 1962
Tan, Y. H., Tischfield, J., Ruddle, F. H.: The linkage of gene for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21. J. exp. Med. 137, 317 (1973)
Walker, F. A., Hsia, D. Y. Y., Slatis, H. M., Steinberg, A. G.: Galactosemia: a study of twentyseven kindreds in North America. Ann. hum. Genet. 25, 287 (1962)
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This work was supported by a grant of the Ministry of Health, No. 500.6/1143.
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Crosti, N., Serra, A., Rigo, A. et al. Dosage effect of SOD-A gene in 21-trisomic cells. Hum Genet 31, 197–202 (1976). https://doi.org/10.1007/BF00296146
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DOI: https://doi.org/10.1007/BF00296146