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

• Published in: Nature genetics Vol. 4; no. 2; pp. 181 - 186
• Main Authors: Baxendale, Sarah, MacDonald, Marcy E, Mott, Richard, Francis, Fiona, Lin, Carol, Kirby, Susan F, James, Marianne, Zehetner, Günther, Hummerich, Holger, Valdes, John, Collins, Francis S, Deaven, Larry J, Gusella, James F, Lehrach, Hans, Bates, Gillian P
• Format: Journal Article
• Language: English
• Published: United States 01-06-1993
• Subjects: Base Sequence; Chromosome Mapping; Chromosome Walking; Chromosomes, Fungal; Chromosomes, Human, Pair 4; Cosmids; Gene Library; Genes; Genetic Markers; Genome, Human; Humans; Huntington Disease - genetics; Molecular Sequence Data; Recombination, Genetic; Repetitive Sequences, Nucleic Acid; Restriction Mapping
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng0693-181

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.