Summary
Blood samples from 778 Burundian, Rwandan, and Zaïran negroes were examined by electrophoresis on cellulose acetate for phosphoglycerate kinase polymorphism. PGK 1 was observed in all but 6 hemolysates; in these cases a new allele was detected, having a frequency of about 0.018 in Rwandans.
This is a preview of subscription content, log in via an institution to check access.
References
Beutler, E.: Electrophoresis of phosphoglycerate kinase. Biochem. Genet. 3, 189–195 (1969)
Boivin, P., Hakim, J., Mandereau, J., Galand, C., Degos, F., Schaison, E.: Deficit en 3 phosphoglycerate kinase erythrocytaire et leucocytaire. Etude des propriétés de l'enzyme, de la fonction phagocytaire des polynucléaires et revue de la littérature. Nouv. Rev. franc. Hémat. 14, 495–508 (1974)
Cartier, P., Habibi, B., Leroux, J. P., Marchand, J. C.: Anémie hémolytique congénitale associée à un déficit en phosphoglycérate kinase, dans les globules rouges, les polynucléaires et les lymphocytes. Nouv. Rev. franc. Hémat. 11, 565–578 (1971)
Chen, Sh., Giblett, E. R.: Phosphoglycerate kinase: additional variants and their geographic distribution. Amer. J. hum. Genet. 24, 229–230 (1972)
Chen, Sh., Malcolm, L. A., Yoshida, A., Giblett, E. R.: Phosphoglycerate kinase: an X-linked polymorphism in man. Amer. J. hum. Genet. 23, 87–91 (1971)
Harris, H.: The principles of human biochemical genetics, 2nd ed. Amsterdam-London: North Holland 1975
Hjelm, M., Wadman, B.: Nonspherocytic anemia with phosphogylcerate kinase deficiency. In: Abstr. XIIIth Intern. Congr. Haemat. Munich, Germany, p. 121 (1970)
Konrad, P. N., McCarthy, D. J., Mauer, A. M., Valentine, W. N., Paglia, D. E.: Erythrocyte and leucocyte phosphoglycerate kinase deficiency with neurologic disease. J. Pediat. 82, 456–460 (1973)
Kraus, A. P., Langston, M. F., Lynch, B. L.: Red cell phosphoglycerate kinase deficiency: a new cause of nonspherocytic hemolytic anemia. Biochem. biophys. Res. Commun. 30, 173–177 (1968)
Mazza, P., Arese, P., Bosia, A., Gallo, E., Pescarmona, G. P.: Red cell metabolism in a case of phosphoglycerate kinase deficiency. In: Abstr. XIIIth Intern. Congr. Haemat. Munich, Germany, p. 121 (1970)
Meera Khan, P., Westerfeld, A., Grzeschick, K. H., Deys, B. F., Garson, G. M., Siniscalco, M.: X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-chinese hamster somatic cell hybrid. Amer. J. hum. Genet. 23, 614–623 (1971)
Miwa, S., Nakashima, K., Oda, S., Ogawa, H., Nagafuji, H., Arima, M., Okuna, T., Nakashima, T.: Phosphoglycerate kinase (PGK) deficiency and hereditary nonspherocytic hemolytic anemia: report of a case found in Japanese family. Acta haemat. jap. 35, 571–574 (1972)
Picard, J. Y., Nguyen van Cong, Billardon, C., Le Borgne de Kaquel, C., Feingold, J., Frézal, J.: Confirmation du locus de la phosphoglycerate kinase sur le chromosome X par la méthode d'hybridation cellulaire homme-souris. C.R. Acad. Sci. (Paris) 273 (série D), 95–96 (1971)
Valentine, W. N., Hsieh, H. S., Paglia, D. E., Anderson, H. M., Baughan, M. A., Jaffe, E. R., Garson, O. M.: Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X chromosome linked syndrome. New Engl. J. Med. 280, 528–534 (1969)
Yoshida, A., Miwa, S.: Characterization of a phosphoglycerate kinase variant, associated with hemolytic anemia. Amer. J. hum. Genet. 26, 378–384 (1974)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Le Gall, J.Y., Mubamba, C. & Godin, Y. The red cell 3 phosphoglycerate kinase polymorphism. Hum Genet 34, 311–314 (1976). https://doi.org/10.1007/BF00295296
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00295296