Summary
One percent of the Algerian population carries a weak allele at the DIA1 locus, responsible for a 50% decrease of red cell soluble cytochrome b5 reductase activity. Quantitative abnormalities of the soluble and the membrane-bound enzyme have been investigated in the red cells and in the leukocytes of seven subjects considered to be heterozygous at the DIA1 locus. Conventional electrophoretic or isoelectrophoretic studies did not show any qualitative abnormality. However, continuous titration obtained by combined IEF-electrophoresis displayed in five out of seven subjects a discrete abnormal line on the titration curve compatible with an Arg→His substitution. In fact, at least three types of weak alleles could be defined by combining the qualitative and quantitative results obtained with the erythrocyte (soluble and membrane-bound) and leukocyte enzyme. We call these subgroups DIA Mustapha1, DIA Mustapha2, and DIA Mustapha3.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Choury D, Leroux A, Kaplan JC (1981) Membrane-bound cytochrome b5 reductase (methemoglobin reductase) in human erythrocytes. Study in nomal and methemoglobinemic subjects. J Clin Invest 67:149–155
Hegesh E, Calmanovici N, Avron M (1968) New method for determining ferrihemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes. J Lab Clin Med 72:339–344
Hopkinson DA, Corney G, Cook PJL, Robson EB, Harris H (1970) Genetically determined electrophoretic, variants of human red cell NADH diaphorase. Ann Hum Genet 34:1–10
Hultquist DE, Passon PG (1971) Catalysis of methemoglobin reduction by erythrocyte cytochrome b5 and cytochrome b5 reductase. Nature 229:252–254
Kaplan JC, Beutler E (1967) Electrophoresis of red cell NADH and NADPH diaphorases in normal subjects and patients with congenital methemoglobinemia. Biochem Biophys Res Commun 29:605–610
Kaplan JC, Leroux A, Beauvais P (1979) Formes cliniques et biologiques du déficit en cytochrome b5 reductase. CR Soc Biol (Paris) 173:368–379
Krishnammoorthy R, Bosisio AB, Labie D, Righetti PG (1978) Titration curves of liganded hemoglobins by combined isoelectric focusing electrophoresis. FEBS Lett 94:319–329
Leroux A, Junien C, Kaplan JC, Bamberberger J (1975) Generalized deficiency of cytochrome b5 reductase in congenital methemoglobinemia with mental retardation. Nature 258:619–620
Lostanlen D, Gacon G, Kaplan JC (1980) Direct enzyme titration curve of NADH-cytochrome b5 reductase by combined isoelectrofocusing/electrophoresis. Eur J Biochem 112:179–183
Marchesi SL, Steers E, Marchesi VT, Tillack TW (1970) Physical and chemical properties of a protein isolated from red cell membranes. Biochemistry 9:50–57
Reghis A (1981) La NADH-cytochrome b5 reductase: pathologie, biologie, génétique et ontogénie. Thèse Doctorat ès Sciences Médicales. Alger
Reghis A, Benabadji M, Tchen P, Kaplan JC (1981) Quantitative variations of red cell cytochrome b5 reductase (NADH-methemoglobin reductase). Evidence for defective alleles. Hum Genet 59:148–153
Righetti PG, Krishnamoorthy R, Gianazza E, Labie D (1978) Proteintitration curves by combined isoelectric focusing-electrophoresis with hemoglobin mutants as models. J Chromatogr 166:455–460
Scott EM, Griffith IV (1959) The enzymatic defect in hereditary methemoglobinemia: diaphorase. Biochim Biophys Acta 34:584–586
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Reghis, A., Troungos, C., Lostanlen, D. et al. Characterization of weak alleles at the DIA1 locus (Mustapha 1, Mustapha 2, and Mustapha 3) in the Algerian population. Hum Genet 64, 173–175 (1983). https://doi.org/10.1007/BF00327119
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00327119