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Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect

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Summary

Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To evaluate further this assignment we have studied the expression of this enzyme in red cells of three children with a trisomy of the region 11qter. We confirm the results of Meisler et al. (1980) and demonstrate that uroporphyrinogen I synthase activity is increased by a factor of 1.5 in trisomy 11qter. In erythrocytes of one child with a trisomy 11p, the expression of this enzyme was normal.

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Authors and Affiliations

  1. Laboratoire de Biochimie, Hôpital Louis Mourier, 178 rue des Renouillers, F-92700, Colombes, France

    H. de Verneuil, N. Phung & Y. Nordmann

  2. Laboratoire de Biochimie Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, f-75730, Paris Cedex 15, France

    D. Allard, F. Leprince & H. Jérome

  3. Institut de Progénèse, 15 rue de l'Ecole de Médecine, F-75006, Paris, France

    A. Aurias & M. O. Rethoré

Authors
  1. H. de Verneuil
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  2. N. Phung
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  3. Y. Nordmann
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  4. D. Allard
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  5. F. Leprince
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  6. H. Jérome
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  7. A. Aurias
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  8. M. O. Rethoré
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de Verneuil, H., Phung, N., Nordmann, Y. et al. Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect. Hum Genet 60, 212–213 (1982). https://doi.org/10.1007/BF00303004

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  • DOI: https://doi.org/10.1007/BF00303004

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