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

Nature Geneticsvolume 4pages181186 (1993) | Download Citation



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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Author information


  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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