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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1980 May;32(3):364–373.

Characterization of a phosphoglycerate kinase deficiency variants not associated with hemolytic anemia.

W K Krietsch, S W Eber, B Haas, W Ruppelt, G W Kuntz
PMCID: PMC1686073  PMID: 6770677

Abstract

The properties of a variant phosphoglycerate kinase (PGK) found in a large German clan were examined. The normal and variant enzymes, isolated by affinity chromatography, have the same molecular weight, specific activity, substrate affinity, and nearly identical pH-optima. Using immunoinactivation and immunodiffusion, the same specific activity for both forms was again determined. Since the enzymatic activity in older and younger erythrocytes varied only slightly, and since the specific activity of the variant was normal, the variant seems to be stable in vivo. This suggests that the decreased enzyme content is due to a decreased synthesis rate. The variant PGK described here is distinctly different from the known PGK variants and has been designated as "PGK München."

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Selected References

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  1. Arese P., Bosia A., Gallo E., Mazza U., Pescarmona G. P. Red cell glycolysis in a case of 3-phosphoglycerate kinase deficiency. Eur J Clin Invest. 1973 Jan;3(1):86–92. doi: 10.1111/j.1365-2362.1973.tb00333.x. [DOI] [PubMed] [Google Scholar]
  2. BOYER S. H., HATHAWAY P., GARRICK M. D. MODULATION OF PROTEIN SYNTHESIS IN MAN: AN IN VITRO STUDY OF HEMOGLOBIN SYNTHESIS BY HETEROZYGOTES. Cold Spring Harb Symp Quant Biol. 1964;29:333–346. doi: 10.1101/sqb.1964.029.01.036. [DOI] [PubMed] [Google Scholar]
  3. Boivin P., Hakim J., Mandereau J., Galand C., Degos F., Schaison G. Déficit en 3-phosphoglycérate kinase érythrocytaire et leucocytaire. Etude des propriétés de l'enzyme, de la fonction phagocytaire des polynucléaires et revue de la littérature. Nouv Rev Fr Hematol. 1974 Jul-Aug;14(4):495–508. [PubMed] [Google Scholar]
  4. Bradford M. M. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 1976 May 7;72:248–254. doi: 10.1016/0003-2697(76)90527-3. [DOI] [PubMed] [Google Scholar]
  5. Cartier P., Habibi B., Leroux J. P., Marchand J. C. Anémie hémolytique congénitale associée a un déficit en phosphoglycérate-kinase dans les globules rouges, les polynucléaires et les lymphocytes. Nouv Rev Fr Hematol. 1971 Jul-Aug;11(4):565–578. [PubMed] [Google Scholar]
  6. Chen S. H., Giblett E. R. Phosphoglycerate kinase: additional variants and their geographic distribution. Am J Hum Genet. 1972 Mar;24(2):229–230. [PMC free article] [PubMed] [Google Scholar]
  7. Chen S. H., Malcolm L. A., Yoshida A., Giblett E. R. Phosphoglycerate kinase: an X-linked polymorphism in man. Am J Hum Genet. 1971 Jan;23(1):87–91. [PMC free article] [PubMed] [Google Scholar]
  8. Cohen P. T., Omenn G. S., Motulsky A. G., Chen S. H., Giblett E. R. Restricted variation in the glycolytic enzymes of human brain and erythrocytes. Nat New Biol. 1973 Feb 21;241(112):229–233. doi: 10.1038/newbio241229a0. [DOI] [PubMed] [Google Scholar]
  9. Kahn A., Cottreau D., Galand C., Boivin P. Human erythrocyte phosphoglycerate kinase deficiency: presence in a deficient patient of a stable variant with lowered catalytic activity. Clin Chim Acta. 1976 May 17;69(1):21–28. doi: 10.1016/0009-8981(76)90467-8. [DOI] [PubMed] [Google Scholar]
  10. Konrad P. N., McCarthy D. J., Mauer A. M., Valentine W. N., Paglia D. E. Erythrocyte and leukocyte phosphoglycerate kinase deficiency with neurologic disease. J Pediatr. 1973 Mar;82(3):456–460. doi: 10.1016/s0022-3476(73)80120-9. [DOI] [PubMed] [Google Scholar]
  11. Kraus A. P., Langston M. F., Jr, Lynch B. L. Red cell phosphoglycerate kinase deficiency. A new cause of non-spherocytic hemolytic anemia. Biochem Biophys Res Commun. 1968 Jan 25;30(2):173–177. doi: 10.1016/0006-291x(68)90466-x. [DOI] [PubMed] [Google Scholar]
  12. Krietsch W. K., Bücher T. 3-phosphoglycerate kinase from rabbit sceletal muscle and yeast. Eur J Biochem. 1970 Dec;17(3):568–580. doi: 10.1111/j.1432-1033.1970.tb01202.x. [DOI] [PubMed] [Google Scholar]
  13. Krietsch W. K., Krietsch H., Kaiser W., Dünnwald M., Kuntz G. W., Duhm J., Bücher T. Hereditary deficiency of phosphoglycerate kinase: a new variant in erythrocytes and leucocytes, not associated with haemolytic anaemia. Eur J Clin Invest. 1977 Oct;7(5):427–435. doi: 10.1111/j.1365-2362.1977.tb01630.x. [DOI] [PubMed] [Google Scholar]
  14. Kuntz G. W., Eber S., Kessler W., Krietsch H., Krietsch W. K. Isolation of phosphoglycerate kinases by affinity chromatography. Eur J Biochem. 1978 Apr 17;85(2):493–501. doi: 10.1111/j.1432-1033.1978.tb12265.x. [DOI] [PubMed] [Google Scholar]
  15. Laemmli U. K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970 Aug 15;227(5259):680–685. doi: 10.1038/227680a0. [DOI] [PubMed] [Google Scholar]
  16. Le Gall J. Y., Mubamba C., Godin Y. The red cell 3 phosphoglycerate kinase polymorphism. Report of a new allele. Hum Genet. 1976 Dec 15;34(3):311–314. doi: 10.1007/BF00295296. [DOI] [PubMed] [Google Scholar]
  17. Mancini G., Carbonara A. O., Heremans J. F. Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry. 1965 Sep;2(3):235–254. doi: 10.1016/0019-2791(65)90004-2. [DOI] [PubMed] [Google Scholar]
  18. Miwa S., Nakashima K., Oda S., Takahashi K., Morooka K. Evidence of the decreased muscle enzyme activity in erythrocyte phosphoglycerate kinase deficiency. Nihon Ketsueki Gakkai Zasshi. 1974 Feb;37(1):59–62. [PubMed] [Google Scholar]
  19. Omoto K., Blake N. M. Distribution of genetic variants of erythrocyte phosphoglycerate kinase (PGK) and phosphohexose isomerase (PHI) among some population groups in south-east Asia and Oceania. Ann Hum Genet. 1972 Jul;36(1):61–67. doi: 10.1111/j.1469-1809.1972.tb00581.x. [DOI] [PubMed] [Google Scholar]
  20. Reimann B., Maretzki D. 3-Phosphoglyzeratkinase aus Erythrozyten des Meschen: Reinigung und kinetische Eigenschaften in der Vorwärtstreaktion. Acta Biol Med Ger. 1977;36(2):167–178. [PubMed] [Google Scholar]
  21. Sanderson R. J., Bird K. E., Palmer N. F., Brenman J. Design principles for a counterflow centrifugation cell separation chamber. Anal Biochem. 1976 Apr;71(2):615–622. doi: 10.1016/s0003-2697(76)80036-x. [DOI] [PubMed] [Google Scholar]
  22. Valentine W. N., Hsieh H. S., Paglia D. E., Anderson H. M., Baughan M. A., Jaffé E. R., Garson O. M. Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. A probable X-chromosome-linked syndrome. N Engl J Med. 1969 Mar 6;280(10):528–534. doi: 10.1056/NEJM196903062801003. [DOI] [PubMed] [Google Scholar]
  23. VandeBerg J. L., Johnston P. G. A simple technique for long-term storage of erythrocytes for enzyme electrophoresis. Biochem Genet. 1977 Apr;15(3-4):213–215. doi: 10.1007/BF00484453. [DOI] [PubMed] [Google Scholar]
  24. Yoshida A. Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. J Mol Biol. 1970 Sep 28;52(3):483–490. doi: 10.1016/0022-2836(70)90414-6. [DOI] [PubMed] [Google Scholar]
  25. Yoshida A., Miwa S. Characterization of a phosphoglycerate kinase variant associated with hemolytic anemia. Am J Hum Genet. 1974 May;26(3):378–384. [PMC free article] [PubMed] [Google Scholar]
  26. Yoshida A., Watanabe S., Chen S. H., Giblet E. R., Malcolm L. A. Human phosphoglycerate kinase. II. Structure of a variant enzyme. J Biol Chem. 1972 Jan 25;247(2):446–449. [PubMed] [Google Scholar]

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