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Nature 306, 234-238 (17 November 1983) | doi:10.1038/306234a0; Accepted 20 October 1983

A polymorphic DNA marker genetically linked to Huntington's disease

James F. Gusella*, Nancy S. Wexler†, parallel, P. Michael Conneally†, Susan L. Naylor§, Mary Anne Anderson*, Rudolph E. Tanzi*, Paul C. Watkins*, , Kathleen Ottina*, Margaret R. Wallace‡, Alan Y. Sakaguchi§, Anne B. Youngparallel, Ira Shoulsonparallel, Ernesto Bonillaparallel & Joseph B. Martin*

  1. *Neurology Department and Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
  2. †Hereditary Disease Foundation, 9701 Wilshire Blvd, Beverley Hills, California 90212, USA
  3. ‡Department of Medical Genetics, Indiana University Medical Center, Indianapolis, Indiana 46223, USA
  4. §Department of Human Genetics, Roswell Park Memorial Institute, Buffalo, New York 14263, USA
  5. parallel, Venezuela Collaborative Huntington's Disease Project£
  6. Present address: Integrated Genetics Inc., 51 New York Avenue, Framingham, Massachusetts 01701, USA.
  7. £Members of the Venezuela Collaborative HD Project included: R. Erbe, E. Bonilia, I. de Quiroz, J. Esteves, H. Moreno, M. Villa Lobas, S. Bailey, F. A. Burnham, M. Dorn, E. Goldstein, A. Greene, F. Gomez, K. Kidd, J. Kidd, E. Messer, Z. Layrisse, N. Marsol, J. Penny, A. Young, G. H. Rosenzweig, I. Shoulson, S. Starosta, R. Snodgrass, H. Travers, M. Rivas, R. S. Uzzell and A. R. Wexler.
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Family studies show that the Huntington's disease gene is linked to a polymorphic DNA marker that maps to human chromosome 4. The chromosomal localization of the Huntington's disease gene is the first step in using recombinant DNA technology to identify the primary genetic defect in this disorder.