A COSMID CONTIG AND HIGH-RESOLUTION RESTRICTION MAP OF THE 2 MEGABASEREGION CONTAINING THE HUNTINGTONS-DISEASE GENE

The quest for the mutation responsible for Huntington's disease (HD) h as required an exceptionally detailed analysis of a large part of 4p16 .3 by molecular genetic techniques, making this stretch of 2.2 megabas es one of the best characterized regions of the human genome. Here we describe the construction of a cosmid and Pl clone contig spanning the region containing the HD gene, and the establishment of a detailed, h igh 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 g ene. The restriction map provides the framework for the detailed analy sis of a region extremely rich in coding sequences. This study also ex emplifies many of the strategies to be used in the analysis of larger regions of the human genome.