Humangenetik

, Volume 10, Issue 3, pp 224–230

Detection of phosphohexose isomerase deficiency in human fibroblast cultures

  • W. Krone
  • G. Schneider
  • D. Schulz
  • H. Arnold
  • K. G. Blume
Original Investigations

DOI: 10.1007/BF00295784

Cite this article as:
Krone, W., Schneider, G., Schulz, D. et al. Hum Genet (1970) 10: 224. doi:10.1007/BF00295784

Summary

Fibroblasts cultured from two patients afflicted with nonspherocytic hemolytic anemia due to phosphohexose isomerase (PHI) deficiency show on the average 53% of the normal PHI-activity. The presence of the defective enzyme in cells derived from the heterozygous relatives of the patients is revealed by an intermediate average specific activity; the wide range of PHI-activities observed in these cells, however, precludes the detection of heteozygotes. The PHI-genotypes of the patients and of their heterozygous and normal relatives respectively, can be distinguished by starch gel electrophoresis and by heat-inactivation studies with fibroblast-homogenates. These latter experiments confirm the results obtained with hemolysates (Tariverdian et al., 1970).

Copyright information

© Springer-Verlag 1970

Authors and Affiliations

  • W. Krone
    • 1
  • G. Schneider
    • 1
  • D. Schulz
    • 1
  • H. Arnold
    • 2
  • K. G. Blume
    • 2
  1. 1.Institut für Humangenetik und Anthropologie Freiburg i. Br.Freiburg i. Br.Deutschland
  2. 2.Medizinische Universitätsklinik Freiburg i. B.Freiburg i. B.Deutschland