Summary
With an electro-immunodiffusion technique the authors immunologically titrated 10 deficient glucose-6-phosphate dehydrogenase variants in the leukocytes, platelets, and red blood cells.
By comparison between the immunological reactivity and the enzymatic activity, the relative importance of the molecular instability, the decrease in molecular specific activity, and the post-translational modifications of the muted protein could be appreciated.
The Gd(-) A, Gd(-) West Bengale, Gd(-) Seattle, and Gd(-) Worcester-like variants had a normal specific activity and were only unstable.
The Gd(-) Mali, Gd(-) Fort de France, Gd(-) Ankara, Gd(-) Mediterranee, Gd(-) Matam, and Gd(-) Benevento-like variants were also unstable and they had a diminished molecular specific activity, which entirely or partly explained the leukocyte deficiency.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Azevedo, E., Kirkman, A. N., Morrow, A. C., Motulsky, A. G.: Variants of red cell glucose-6-phosphate dehydrogenase among Asiatic Indians. Ann. hum. Genet. 31, 373 (1968)
Boyer, S. H., Porter, I. H., Weilbacher, R. G.: Electrophoretic heterogeneity of G-6PD and its relationship to enzyme deficiency in man. Proc. nat. Acad. Sci. (Wash.) 48, 1869 (1962)
Crookston, J. H., Yoshida, A., Lin, M., Booser, D. J.: G-6PD Toronto. Biochem. Genet. 8, 259 (1973)
Gray, G. R., Klebanoff, S. J., Stamatoyannopoulos, G., Austin, T., Naiman, S. C., Yoshida, A., Kliman, M. R., Robinson, G. C. F.: Neutrophil dysfunction, chronic granulomatous disease and non spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase. Lancet 1973 II, 530
Kahn, A., Boivin, P., Hakim, J., Lagneau, J.: Hétérogénéïté des glucose-6phosphate dehydrogenase erythrocytaire deficitaires dans la race noire. Etude cinétique et description de deux nouvelles variantes: “Gd(-) Dakar et Gd(-) Mali”. Nouv. Rev. franc. Hémat. 11, 741 (1971)
Kahn, A., Boivin, P., Lagneau, J.: Etude cinétique et thermodynamique de la glucose-6-phosphate-dehydrogénase erythrocytaire chez l'homme. Application à 7 variantes différentes de la race noire. Biochem. 54, 775 (1972)
Kahn, A., Boivin, P., Lagneau, J.: Phénotypes de la glucose-6-phosphate deshydrogenase érythrocytaire dans la race noire. Etude de 301 noirs vivant en France et description de 9 variantes différentes. Fréquence élevée d'une enzyme déficitaire de migration B. Humangenetik 18, 261 (1973a)
Kahn, A., Boivin, P., Lagneau, J., Cruveiller, J.: Deficit en glucose-6-phosphate-deshydrogenase érythrocytaire lié à la présence d'une variante lente dans une famille française. Rapports avec la variante Gd(-) Seattle. Nouv. Rev. franc. Hémat. 13, 163 (1973b)
Kahn, A., Boivin, P., Vibert, M., Cottreau, D., Dreyfus, J. C.: Post-translational modifications of human glucose-6-phosphate dehydrogenase. Biochimi (in press)
Kahn, A., Dreyfus, J. C.: Purification of glucose-6-phosphate dehydrogenase from red blood cells and from human leukocytes. Description of a new method of purification by elective elution of the enzyme by NADP+. Biochim. biophys. Acta (Amst.) 334, 257 (1974)
Kahn, A., Leger, J., Boivin, P., Hollard, D., Hakim, J.: Anémie hémolytique congénitale non spérocytaire par déficit en G-6PD: étude physiologique et biochimique d'une variante inhabituelle. Rapport avec la G-6PD Benevento. Biochimie 55, 1121 (1973c)
Kahn, A., Meienhofer, M. C., Vibert, M., Dreyfus, J. C.: Vieillissement moléculaire de la glucose-6-phosphate deshydrogenase humaine. C.R. Acad. Sci. (Paris) — Ser. D 278, 1965 (1974a)
Kahn, A., Vives-Corrons, J. L., Cottreau, D., Boivin, P.: Glucose-6-phosphate dehydrogenase slow variant with deficiency in a Spanish family. Relationship with the Gd(-) Seattle variant. Biomedicine 21, 303 (1974b)
Kirkman, H. N., Schettini, F., Pickard, B. M.: Mediterranean variant of G-6PD. J. Lab. clin. Med. 63, 726 (1964)
Kirkman, H. N., Simon, E. R., Pickard, B.: Seattle variant of G-6PD. J. Lab. clin. Med. 66, 834 (1965)
Laurell, C. B.: Antigen-antibody cross electrophoresis. Anal. Biochem. 10, 358 (1965)
Lowry, O. H., Rosebrough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the folin phenol reagent. J. biol. Chem. 193, 265 (1951)
Milner, G., Delamore, I. W., Yoshida, A.: G-6-PD Manchester: a new variant associated with chronic nonspherocytic hemolytic anaemia. Blood 43, 271 (1974)
Ohno, S., Payne, H. W., Morrison, M., Morrison, M., Beutler, E.: Hexose-6-phosphate dehydrogenase found in human liver. Science 153, 1015 (1966)
Ramot, B., Bauminger, S., Brock, F., Gafni, D., Schwartz, J.: Characterization of G-6PD in Jewish-mutants. J. Lab. clin. Med. 64, 895 (1964)
Ramot, B., Bauminger, S., Brock, F., Schwartz, J.: Hetérogeneïty among glucose-6-phosphate dehydrogenase deficient mutants. Israel J. med. Sci. 1, 764 (1965)
Rosa, R., Alexandre, Y., Kaplan, J. C., Dreyfus, J. C.: Compartement immunologique de la glucose-6-phosphate deshydrogenase érythrocytaire chez des mutants dificients. Clin. chim. Acta 29, 209 (1970)
Shaw, C. R.: Glucose-6-phosphate dehydrogenase. Homologous molecules in deer mouse and man. Science 153, 1013 (1966)
Yoshida, A.: A single amino acid substitution (asparagine to aspartic acid) between (B+) and the common Negro variant (A+) of human glucose-6-phosphate dehydrogenase. Proc. nat. Acad. Sci. (Wash.) 57, 835 (1967)
Yoshida, A.: Amino acid substitution (histidine to tyroxine) in a glucose-6-phosphate dehydrogenase variant (G-6-PD Hektoen) associated with over production. J. molec. Biol. 52, 483 (1970)
Yoshida, A., Baur, E. W., Moutulsky, A. G.: Aphilippino glucose-6-phosphate dehydrogenase variant (G-6-PD union) with enzyme eficiency and altered substrate specificity. Blood 35, 506 (1970)
Yoshida, A., Stamatoyannopoulos, G., Motulsky, A. G.: Biochémical genetic of glucose-6-phosphate dehydrogenase variation. Ann. N.Y. Acad. Sci. 155, 868 (1968)
Zinkham, W. H.: Enzymes studies on lenses from persons with primaquine sensitive erythrocytes. Amer. J. Dis. Child. 100, 525 (1960)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kahn, A., Cottreau, D. & Boivin, P. Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency. Hum Genet 25, 101–109 (1974). https://doi.org/10.1007/BF00283310
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00283310