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β-Globin gene inactivation by DNA translocation in γβ-thalassaemi

Nature volume 306, pages 662–666 (1983)Cite this article

Abstract

The β-globin gene present on the deletion locus in a Dutch γβ-thalassaemic patient was found to be identical to the normal β-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected β-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the β-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.

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Author information

Author notes

  1. E. Vanin: Laboratory of Genetics, University of Wisconsin, Madison, Wisconsin 53706, USA

  2. T. deLange: Laboratory of Biochemistry, Jan Swammerdam Institute, University of Amsterdam, PO Box 60.000, 1005 GA Amsterdam, The Netherlands

  3. R. A. Flavell: Biogen Inc., 14 Cambridge Center, Cambridge, Massachusetts 02142, USA

Authors and Affiliations

  1. Laboratory of Gene Structure and Expression, National Institute for Medical Research, The Ridgeway, Mill Hill, London, NW7 1AA, UK

    D. Kioussis, E. Vanin, T. deLange, R. A. Flavell & F. G. Grosveld

Authors
  1. D. Kioussis
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  2. E. Vanin
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  3. T. deLange
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  4. R. A. Flavell
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  5. F. G. Grosveld
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Kioussis, D., Vanin, E., deLange, T. et al. β-Globin gene inactivation by DNA translocation in γβ-thalassaemi. Nature 306, 662–666 (1983). https://doi.org/10.1038/306662a0

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