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).
Similar content being viewed by others
References
Arnold, H., Blume, K. G., Busch, D., Lenkeit, U., Löhr, G. W., Lübs, E.: Klinische und biochemische Untersuchungen zur Glucosephosphatisomerase normaler menschlicher Erythrocyten und bei Glucosephosphatisomerase-Mangel. Klin. Wschr., in press (1970).
Baughan, M. A., Valentine, W. N., Paglia, D. E., Ways, P. O., Simons, E. R., DeMarsh, A. B.: Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency—a new enzyme defect of human erythrocytes. Blood 32, 236–249 (1968).
Davidson, R. G.: Application of cell culture techniques to human genetics, in: Modern trends in human genetics, Emery, A.E.H., editor; vol. 1, p. 143–180. London: Butterworth 1970.
DeMars, R.: Some studies of enzymes in cultivated human cells. Nat. Cancer Inst. Monogr. 13, 181–193 (1964).
Detter, J. C., Ways, P. O., Giblett, E. R., Baughan, M. A., Hopkinson, D. A., Povey, S., Harris, H.: Inherited variation in human phosphohexose isomerase. Ann. hum. Genet. 31, 329–338 (1968).
Evans, V. J., Earle, W. R.: The use of perforated cellophan for the growth of cells in tissue culture. J. nat. Cancer Inst. 8, 103 (1947).
Lowry, O. H., Roseburough, N. J., Farr, A. L., Randall, R. J.: Protein measurement with the Folin phenol reagent. J. biol. Chem. 193, 265–275 (1959).
Paglia, D. E., Holland, P., Baughan, M. A., Valentine, W. N.: Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes. New. Engl. J. Med. 280, 66–71 (1969).
Schimke, R. T.: On the roles of synthesis and degradation in regulation of enzyme levels in mammalian tissues, in: Current topics in cellular regulation, Horecker, B. L., Stadtman, E. R., editors; vol. 1, p. 77–124. New York-London: Academic Press 1969.
Selvyn, J. G., Dacie, J. V.: Autohemolysis and other changes resulting from the incubation in vitro of red cells from patients with congenital hemolytic anemia. Blood 9, 414 (1954).
Tariverdian, G., Arnold, H., Blume, K. G., Lenkeit, U., Löhr, G. W.: Zur Formalgenetik der Phosphoglucoseisomerase (E.C.: 5.3.1.9); Untersuchung einer Sippe mit PGI-Defizienz. Humangenetik 10, 218–223 (1970).
Author information
Authors and Affiliations
Additional information
D-Glucose-6-phosphate-ketol-isomerase, E.C.5.3.1.9.
Supported by the Deutsche Forschungsgemeinschaft.
Supported by the Stiftung Volkswagenwerk.
Rights and permissions
About this article
Cite this article
Krone, W., Schneider, G., Schulz, D. et al. Detection of phosphohexose isomerase deficiency in human fibroblast cultures. Hum Genet 10, 224–230 (1970). https://doi.org/10.1007/BF00295784
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00295784