Nature Genetics
4, 181 - 186 (1993)
doi:10.1038/ng0693-181
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease geneSarah Baxendale1, Marcy E. MacDonald2, Richard Mott1, Fiona Francis1, Carol Lin2, Susan F. Kirby1, Marianne James2, Günther Zehetner1, Holger Hummerich1, John Valdes3, Francis S. Collins3, Larry J. Deaven4, James F. Gusella2, Hans Lehrach1
& Gillian P. Bates1
1Genome Analysis Laboratory, Imperial Cancer Research Fund, 44 Lincoln's Inn Fields, London WC2A 3PX, UK
2Neurogenetics Laboratory, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston Massachusetts 02114, USA
3Department of Internal Medicine and Human Genetics, and the Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan 48109, USA
4Los Alamos National Laboratory, Los Alamos, New Mexico 87545, USA Correspondence should be addressed to S.B. 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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