title: A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene.
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.
authors.affiliation: Genome Analysis Laboratory, Imperial Cancer Research Fund, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Baxendale
authors.forename: M E
authors.initials: ME
authors.lastname: MacDonald
authors.forename: R
authors.initials: R
authors.lastname: Mott
authors.forename: F
authors.initials: F
authors.lastname: Francis
authors.forename: C
authors.initials: C
authors.lastname: Lin
authors.forename: S F
authors.initials: SF
authors.lastname: Kirby
authors.forename: M
authors.initials: M
authors.lastname: James
authors.forename: G
authors.initials: G
authors.lastname: Zehetner
authors.forename: H
authors.initials: H
authors.lastname: Hummerich
authors.forename: J
authors.initials: J
authors.lastname: Valdes
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D016386:Chromosome Walking; D015825:Chromosomes, Fungal; D002894:Chromosomes, Human, Pair 4; D003360:Cosmids; D015723:Gene Library; D005796:Genes; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008969:Molecular Sequence Data; D011995:Recombination, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
chemical_list: D005819:Genetic Markers