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Detection of phosphohexose isomerase deficiency in human fibroblast cultures

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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).

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D-Glucose-6-phosphate-ketol-isomerase, E.C.5.3.1.9.

Supported by the Deutsche Forschungsgemeinschaft.

Supported by the Stiftung Volkswagenwerk.

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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

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  • DOI: https://doi.org/10.1007/BF00295784

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