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Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: 2.7.7.12)

Gene frequencies in southwestern Germany

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Summary

The genetic polymorphism of galactose-1-phosphate-uridyl transferases was investigated in a population sample in southwestern Germany. The frequency of the common allele Gt2 was estimated to be 0.0723. Due to the electrophoretic pattern of homozygous and heterozygous phenotypes the enzyme is of dimeric structure consisting of two identical polypeptide chains.

Zusammenfassung

Der Polymorphismus der Galactose-1-Phosphat-Uridyl-Transferasen wurde in einer Bevölkerungsstichprobe aus Südwestdeutschland untersucht. Die Genfrequenz für das Allel Gt2 beträgt 0,0723. Aus den Zymogrammen ergibt sich, daß das Enzyme Dimerstruktur besitzt.

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References

  • Beutler, E., Mathai, C. K.: Genetic variation in red cell galactose-1-phosphate uridyl transferase. In: Hereditary disorders of erythrocyte metabolism (Ed. Beutler, E.); City of Hope Symposium Series, Vol. I. New York-London: Grune & Stratton 1967.

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  • Chacko, C. M., Christian, J. C., Nadler, H. L.: Unstable galactose-1-phosphate uridyl transferase: A new variant of galactosemia. J. Pediat.78, 454–460 (1971).

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Authors and Affiliations

  1. Institut für Anthropologie und Humangenetik, University of Tübingen, Germany

    S. Bissbort & J. Kömpf

Authors
  1. S. Bissbort
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  2. J. Kömpf
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Supported by the Deutsche Forschungsgemeinschaft.

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Bissbort, S., Kömpf, J. Population genetics of red cell galactose-1-phosphate-uridyl-transferase (EC: 2.7.7.12). Hum Genet 17, 79–80 (1972). https://doi.org/10.1007/BF01789605

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  • DOI: https://doi.org/10.1007/BF01789605

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