Abstract
Alpha1-antitrypsin (alpha1-at) concentration in serum was measured by a method of single radial diffusion. The normal concentration was 212±32 mg/100 ml. Values for members of the families in which the alpha1-at deficiency occurred were trimodally distributed with values of 25±6, 120±46, and 227±56 mg/100 ml. Subjects with low values were homozygous for the deficiency gene, those with intermediate values were heterozygous, and those with normal values were homozygous for the normal gene.
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Augener, W.: Immunanalyse von Glykoproteinen. In Protides of the Biological Fluids. Proceedings of the 12th Colloquium, Bruges 1964, p. 363–371, H. Peeters, (ed.). Amsterdam-London-New York: Elsevier 1965.
Briscoe, W. A., F. Kueppers, A. L. Davis and A. G. Bearn: A case of inherited deficiency of serum alpha1-antitrypsin associated with pulmonary emphysema. Amer. Rev. resp. Dis. 94, 529–539 (1966).
Eriksson, S.: Pulmonary emphysema and alpha1-antitrypsin deficiency. Acta med. scand. 175, 197–205 (1964).
Everall, P. H., and G. H. Wright: Low pressure ultra-filtration of protein-containing fluids. J. med. Lab. Technol. 15, 209–213 (1958).
Kueppers, F., W. A. Briscoe, and A. G. Bearn: Hereditary deficiency of alpha1-antitrypsin. Science 146, 1678–1679 (1964).
Kunkel, H. G., and R. Trautman: Zone electrophoresis in various types of supporting media. In Electrophoresis, p. 225. M. Bier (ed.) New York: Academic Press 1959.
Laurell, C.-B., and S. Eriksson: The electrophoretic alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency. Scand. J. clin. Lab. Invest. 15, 132–140 (1963).
Mancini, G., J.-P. Vaerman, A. O. Carbonara, and J. F. Heremans: A single-radial-diffusion method for the immunological quantitation of proteins. In: Protides of the Biological Fluids, Proceedings of the 11th Colloquium, Bruges 1963, p. 370–373, H. Peeters (ed.). Amsterdam-London-New York: Elsevier 1964.
Müller-Eberhard, H. J.: A new supporting medium for preparative electrophoresis. Scand. J. clin. Lab. Invest. 12, 33–37 (1960).
Schwick, H. G., N. Heimburger u. H. Haupt: Antiproteinasen des Humanserums. Z. ges. inn. Med. 21, 193–198 (1966).
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Supported in part by grant HE-06285 from the United States Public Health Service.
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Kueppers, F. Immunologic assay of alpha1-antitrypsin in deficient subjects and their families. Hum Genet 5, 54–58 (1967). https://doi.org/10.1007/BF00286211
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DOI: https://doi.org/10.1007/BF00286211