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

Nat Genet. 1993 Jun;4(2):181-6. 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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 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*


  • Genetic Markers