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A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

Nature Genetics volume 4, pages 181–186 (1993)Cite this article

Abstract

The quest for the mutation responsible for Huntington's disease (HD) has required an exceptionally detailed analysis of a large part of 4p16.3 by molecular genetic techniques, making this stretch of 2.2 megabases one of the best characterized regions of the human genome. Here we describe the construction of a cosmid and P1 clone contig spanning the region containing the HD gene, and the establishment of a detailed, high resolution restriction map. This ordered clone library has allowed the identification of several genes from the region, and has played a vital role in the recent identification of the Huntington's disease gene. The restriction map provides the framework for the detailed analysis of a region extremely rich in coding sequences. This study also exemplifies many of the strategies to be used in the analysis of larger regions of the human genome.

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Authors and Affiliations

  1. Genome Analysis Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London, WC2A 3PX, UK

    Sarah Baxendale, Richard Mott, Fiona Francis, Susan F. Kirby, Günther Zehetner, Holger Hummerich, Hans Lehrach & Gillian P. Bates

  2. Neurogenetics Laboratory, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts, 02114, USA

    Marcy E. MacDonald, Carol Lin, Marianne James & James F. Gusella

  3. Department of Internal Medicine and Human Genetics, and the Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan, 48109, USA

    John Valdes & Francis S. Collins

  4. Los Alamos National Laboratory, Los Alamos, New Mexico, 87545, USA

    Larry J. Deaven

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Baxendale, S., MacDonald, M., Mott, R. et al. A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene. Nat Genet 4, 181–186 (1993). https://doi.org/10.1038/ng0693-181

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