A gene map of the human genome

Science. 1996 Oct 25;274(5287):540-6.


The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers on a set of two radiation hybrid panels and a yeast artificial chromosome library. More than 16,000 human genes have been mapped relative to a framework map that contains about 1000 polymorphic genetic markers. The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease. The integrated resource is available through a site on the World Wide Web at http://www.ncbi.nlm.nih.gov/SCIENCE96/.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Chromosome Mapping*
  • Chromosomes, Artificial, Yeast
  • Computer Communication Networks
  • DNA, Complementary / genetics
  • Databases, Factual
  • Gene Expression
  • Genetic Markers
  • Genome, Human*
  • Human Genome Project*
  • Humans
  • Multigene Family
  • RNA, Messenger / genetics
  • Sequence Homology, Nucleic Acid
  • Sequence Tagged Sites


  • DNA, Complementary
  • Genetic Markers
  • RNA, Messenger