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Zur Formalgenetik der Phosphoglucoseisomerase (EC: 5.3.1.9)

Formal genetics of phosphoglucoseisomerase investigations of a family with PGI-Deficiency

Untersuchung einer Sippe mit PGI-Defizienz

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Summary

In a family two children exhibited a non-sphaerocytic hemolytic anemia; they revealed the homozygous phenotype PGI9. The parents are heterozygous PGI 9-1. The comparison of the zymogram pattern of both parents and children allows the conclusion that the PGI molecule is a dimer which has identical subunits in homozygous individuals.

Zusammenfassung

Es werden Befunde aus einer Sippe mit PGI-Defizienz mitgeteilt. Die beiden Patienten haben eine nichtsphärocytäre hämolytische Anämie, sie besitzen den homozygoten Phänotypus PGI9. Die Eltern sind heterozygot PGI 9-1. Der Zymogrammvergleich von Eltern und Kindern spricht für die Hypothese, daß die PGI ein dimeres Molekül sei, das normalerweise aus identischen Polypeptidketten aufgebaut ist.

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Literatur

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Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik Tübingen, Tübingen, Deutschland

    G. Tariverdian

  2. Medizinische Klinik der Universität, Freiburg i. Br., Freiburg i.Br, Deutschland

    H. Arnold, K. G. Blume, U. Lenkeit & G. W. Löhr

Authors
  1. G. Tariverdian
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  2. H. Arnold
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  3. K. G. Blume
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  4. U. Lenkeit
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  5. G. W. Löhr
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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.

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Tariverdian, G., Arnold, H., Blume, K.G. et al. Zur Formalgenetik der Phosphoglucoseisomerase (EC: 5.3.1.9). Hum Genet 10, 218–223 (1970). https://doi.org/10.1007/BF00295783

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  • DOI: https://doi.org/10.1007/BF00295783

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