Skip to main content
Log in

Beitrag zur Populationsgenetik der Pyruvatkinase menschlicher Erythrocyten

Population genetics of pyruvate kinase from red blood cells

ATP-Pyruvate phosphotransferase, E.C.2.7.1.40

  • Kurze Originalmitteilungen
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

In 214 healthy young Germans the activity of Pyruvatekinase from red blood cells has been determined. Three persons had values in the heterozygote range between 10.0 and 20.0 U. Suggesting a 2-allele-model the frequency of the three phenotypes in the German population can be calculated as followed: PK(A)=98.6%, PK(AB)=1.4%, PK(B)=0.005%.

No correlation could be found between the distribution of blood-and serum-groups and the enzyme-activity.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Literatur

  1. Beisenherz, G.: H. J. Boltze, T. Bücher, R. Czok, K. M. Garbade, E. Meyer-Arend u. G. Peleiderer: Diphosphofructose-Aldolase, Phosphoglycerat-Dehydrogenase, Milchsäure-Dehydrogenase, Glycerophosphat-Dehydrogenase und Pyruvatkinase aus Kaninchenmuskulatur in einem Arbeitsgang. Z. Naturforsch. 8b, 555 (1953).

    Google Scholar 

  2. Blume, K. G., G. W. Löhr, H. W. Rüdiger, and A. Schalhorn: Pyruvate kinase in human erythrocytes. Lancet 1968 I, 529.

  3. Bowman, J. E., H. Frisher, M. K. Gower, P. E. Carson, and F. Ajmar: The characterization and the genetics of starch gel electrophoretis patterns of a human erythrocytic kinase. Int. Congr. of Human Genetics, Chicago 1966.

    Google Scholar 

  4. Busch, H. D.: Erythrocyte metabolism in three persons with hereditary non-spherocytic hemolytic anemia, deficient in pyruvate kinase. Proc. 9th Congr. Europ. Soc. Haemat., Lissabon 1963, p. 783, Basel-New York: Karger 1963.

    Google Scholar 

  5. Busch, D., J. Witt, M. Berger, and W. Künzer: Deficieny of pyruvate kinase in the erythrocytes of a child with hereditary non-spherocytic hemolytic anemia. Acta paediat. scand. 55, 177 (1966).

    Google Scholar 

  6. Keitt, A. S.: Pyruvate kinase deficiency and related disorders in red cell glycolysis. Amer. J. Med. 41, 762 (1966).

    Google Scholar 

  7. Löhr, G. W.: The metabolism of red blood cells, Int. Congr. of Haematology, Sidney, 1966.

    Google Scholar 

  8. Löhr, G. W., K. G. Blume, H. W. Rüdiger, G. Sokal, and E. Gulbis: A new type of pyruvate kinase deficiency of human erythrocytes. Lancet 1968 I, 753.

  9. , u. H. D. Waller: Glucose-6-Phosphat Dehydrogenase (Zwischenferment). In: H. U. Bergmeyer: Methoden der enzymatischen Analyse, S. 758, Weinheim (Bergstraße): Verlag Chemie 1962.

    Google Scholar 

  10. Rüdiger, H. W., K. G. Blume, G. W. Löhr u. A. Schalhorn: Elektrophoretische Trennung der Isoenzyme der Glutathion-Reduktase und Pyruvatkinase menschlicher Erythrocyten. Klin. Wschr. 46, 397 (1968).

    Google Scholar 

  11. Tanaka, K. R., N. W. Valentine, and S. Miwa: Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood 19, 267 (1962).

    Google Scholar 

  12. Townes, P. L.: Int. Symp. on hereditary disorders of erythrocyte metabolis. Duarte, Calif., 1967.

  13. Townes, P. L. Electrophoresis of human pyruvate kinase. Lancet 1968 I, 920.

  14. Valentine, N. W., K. R. Tanaka, and S. Miwa: A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Ass. Amer. Phys. 74, 100 (1961).

    Google Scholar 

  15. Waller, H. D., and G. W. Löhr: Hereditary nonspherocytic enzymopenic hemolytic anemia with pyruvate kinase deficiency. Proc. IX. Congr. Int. Soc. Haematology, Mexico City, 1962, p. 257.

  16. Zürcher, C., I. A. Loos, and H. K. Prins: Hereditary high ATP content of human erythrocytes. Folia haemat. (Lpz.) 83, 366 (1965).

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Direktor: Prof. Dr. med. G. W. Löhr

Direktor: Prof. Dr. med. G. G. Wendt

Mit dankenswerter Unterstützung durch die Deutsche Volkswagen-Stiftung.

Herrn Professor Dr.H. E. Bock, Tübingen, zum 65. Geburtstag gewidmet. Wesentliche Teile dieser Arbeit werden von Olaf Praetsch der Medizinischen Fakultät als Dissertation vorgelegt.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Blume, K.G., Löhr, G.W., Praetsch, O. et al. Beitrag zur Populationsgenetik der Pyruvatkinase menschlicher Erythrocyten. Hum Genet 6, 261–265 (1968). https://doi.org/10.1007/BF00291870

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00291870

Navigation