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Über eine neue erythrocytäre Glucose-6-Phosphatdehydrogenase-Variante, ‚Typ Frankfurt‘

I. Charakterisierung der Variante durch enzymkinetische Parameter

A new erythrocyte glucose-6-phosphate dehydrogenase-variant, type frankfurt

I. characterization of the variant by kinetical parameters

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Summary

The paper reports on the results of investigations on the characterization of a new erythrocyte G-6-PD variant, which was found in a German family. Earlier family investigations had already revealed an allosomal X-chromosome linked heredity.

The enzyme was isolated and purified from erythrocytes of a hemizygous carrier of the enzyme defect. This enzyme preparation was used for the determination of the following parameters: enzyme activity, electrophoretic mobility, Michaelis constants for glucose-6-phosphate and NADP, relative rate of utilisation for 2-deoxyglucose-6-phosphate and galactose-6-phosphate, thermostability, thermo-activation, and pH-optima.

The results were compared with the known data of 117 other G-6-PD variants and with own results of parallel studies on the normal enzyme Gd B. The enzyme in question could be shown to represent a new variant. According to the WHO recommendations this variant was named type Frankfurt (Gd Frankfurt).

Zusammenfassung

Es wird über Untersuchungen zur Charakterisierung einer neuen erythrocytären G-6-PD-Variante, die in einer deutschen Sippe gefunden wurde, berichtet. Nachdem bereits vorausgegangene Familienuntersuchungen den allosomalen an das X-Chromosom gebundenen Erbgang aufgezeigt hatten, wurde jetzt aus den Erythrocyten eines hemizygoten Erbmalsträgers dieser Sippe das Enzym teilweise gereinigt und angereichert; in dieser Enzymanreicherung wurden die Aktivität, die elektrophoretische Wanderungsgeschwindigkeit, die Michaeliskonstante für G-6-P und NADP, die relative Utilisationsrate von 2-d-G-6-P und Gal-6-P, die Thermostabilität, die Aktivierung durch Hitze und die pH-Optima untersucht. Der Vergleich dieser Untersuchungsergebnisse mit den aus der Literatur bekannten Werten von 117 weiteren G-6-PD-Varianten und mit den eigenen Ergebnissen von parallel-laufenden Untersuchungen am normalen Enzymtyp Gd B zeigte, daß es sich bei dem untersuchten Enzym um eine neue Variante handelt, die den Empfehlungen der WHO entsprechend als Typ Frankfurt bezeichnet worden ist.

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Authors and Affiliations

  1. Zentrum der Inneren Medizin, Abteilung für Hämatologie der Johann-Wolfgang-Goethe-Universität Frankfurt a.M., Germany

    L. Nowicki, St. Strobel, H. Martin & U. Koschwitz

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  1. L. Nowicki
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  2. St. Strobel
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  3. H. Martin
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  4. U. Koschwitz
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Nowicki, L., Strobel, S., Martin, H. et al. Über eine neue erythrocytäre Glucose-6-Phosphatdehydrogenase-Variante, ‚Typ Frankfurt‘. Klin Wochenschr 52, 478–484 (1974). https://doi.org/10.1007/BF01468536

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  • DOI: https://doi.org/10.1007/BF01468536

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