Summary
By means of starchgel-electrophoresis a screening for variants of NADH-Diaphorase was carried out within a sample of 725 healthy probands. Two kinds of genetically determined variants have been observed: a heterozygous phenotype with greater mobility (DIA 2-1) and a heterozygous phenotype with slower mobility (DIA 3-1). The gene-frequencies are estimated so far as 0.0021 (DIA2) and 0.0007 (DIA3).
Zusammenfassung
Die NADH-Diaphorase wurde an 725 gesunden Probanden mit Hilfe der Stärkegelelektrophorese untersucht. Zwei verschiedene Varianten wurden beobachtet: eine heterozygot schnelle (DIA 2-1) und eine heterozygot langsame (DIA 3-1). Die Genhäufigkeiten sind: DIA2=0,0021; DIA3=0,0007.
Literatur
Bloom, G. E., Zarkowsky, H. S.: Molecular heterogeneity of methemoglobinemia. Proc. Soc. pediat. Res. 39, 59 (1969).
Brewer, G. J., Eaton, J. W., Knutsen, C. S., Beck, C. C.: A starch gel electrophoretic method for the study of diaphorase (isoenzymes and preminary results with sheep and human erythrocytes). Biochem. biophys. Res. Commun. 29, 198–204 (1967).
Detter, J. C., Anderson, J. E., Giblett, E. R.: NADH Diaphorase: An inherited variant associated with normal methemoglobin reduction. Amer. J. hum. Genet. 22, 100–104 (1970).
Kaplan, J.-C., Beutler, E.: Electrophoresis of red cell NADH- and NADPH-diaphorase in normal subjects and patients with congenital methemoglobinemia. Biochem. biophys. Res. Commun. 29, 605–610 (1967).
West, C. A., Gomperts, B. D., Heuns, E. R., Kessel, I., Ashby, J. R.: Demonstration of an enzyme variant in a case of congenital methemoglobinemia. Brit. med. J. 1967 II, 212–214.
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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.
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Tariverdian, G., Ritter, H. & Wendt, G.G. Genetisch kontrollierte Varianten der NADH-Diaphorase. Hum Genet 11, 75–77 (1970). https://doi.org/10.1007/BF00296308
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DOI: https://doi.org/10.1007/BF00296308