Summary
A combination of immunoblotting and polyacrylamide gel isoelectric focusing (IEF-PAGE) was used to define a new genetic variant in the (GC) group-specific component system. This appeared to be a GC 1-type variant, and was presumed to have arisen from duplication of the GC 1F and GC 1A2 genes.
References
Cleve H, Patutschnick W (1979) Neuraminidase treatment reveals sialic acid differences in certain genetic variants of the GC system (vitamin-D-binding protein). Hum Genet 47:193–198
Cleve H, Constans J, Berg S, Hoste B, Ishimoto G, Matsumoto H, Spees EK, Weber W (1981) GC revisited: six further GC-phenotypes delineated by isoelectric focusing and by polyacrylamide gel electrophoresis. Hum Genet 57:312–316
Constans J, Cleve H (1979) Group-specific component: report on the first international workshop. Hum Genet 48:143–149
Constans J, Viau M, Bouissou C (1980) Affinity differences for the 25-OH-D3 associated with the genetic heterogeneity of the vitamin D-binding protein. FEBS Lett 111:107–111
Constans J, Cleve H, Dykes D, Fischer M, Kirk RL, Papiha SS, Scheffran W, Scherz R, Thymann M, Weber W (1983) The polymorphism of the vitamin D-binding protein (GC); isoelectric focusing in 3 M urea as additional method for identification of genetic variants. Hum Genet 65:176–180
Daiger SP, Cavalli-Sforza LL (1977) Detection of genetic variation with radioactive ligands. II. Genetic variants of vitamin D-labeled group-specific component (GC) proteins. Am J Hum Genet 29:593–604
Ishimoto G, Kuwata M, Nakajima H (1979) Group-specific component (GC) polymorphism in Japanese: an analysis by isoelectric focusing on polyacrylamide gels. Jpn J Hum Genet 24:75–83
Kishi K, Yasuda T (1987) Newly characterized genetic polymorphism of uropepsinogen group A (PGA) using both isoelectric focusing and immunoblotting. Hum Genet 75:209–212
Kishi K, Swazaki K, Yasuda T (1988a) Forensic application of blood stains and polymorphism of the sixth component of human complement (C6). Forensic Sci Int 42:27–32
Kishi K, Yasuda T, Ikehara Y (1988b) Alpha-2-HS-glycoprotein (AHSG) polymorphism detected in human urine by isoelectric focusing and immunoblotting. Hum Hered 38:207–210
Race RR, Sanger R (1975) The ABO blood groups. In: Blood groups in man, 6th edn. Blackwell, Oxford, pp 8–91
Svasti J, Bowman BH (1978) Human group-specific component. Changes in electrophoretic mobility resulting from vitamin D binding and from neuraminidase digestion. J Biol Chem 253:4188–4194
Yasuda T, Sato W, Kishi K (1988a) Purification and characterization of a human urine ribonuclease (RNAase 1) showing genetic polymorphism. Biochim Biophys Acta 965:185–194
Yasuda T, Sato W, Mizuta K, Kishi K (1988b) Genetic polymorphism of human serum ribonuclease 1 (RNase 1). Am J Hum Genet 42:608–614
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Yasuda, T., Ikehara, Y., Takagi, S. et al. A hereditary double double-banded variation in the vitamin D-binding protein (GC) system analyzed by immunoblotting: duplication of the 1F and 1A2 genes?. Hum Genet 82, 89–91 (1989). https://doi.org/10.1007/BF00288282
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DOI: https://doi.org/10.1007/BF00288282