Trinucleotide repeat length instability and age of onset in Huntington's disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-08

AUTHORS

M. Duyao, C. Ambrose, R. Myers, A. Novelletto, F. Persichetti, M. Frontali, S. Folstein, C. Ross, M. Franz, M. Abbott, J. Gray, P. Conneally, A. Young, J. Penney, Z. Hollingsworth, I. Shoulson, A. Lazzarini, A. Falek, W. Koroshetz, D. Sax, E. Bird, J. Vonsattel, E. Bonilla, J. Alvir, J. Bickham Conde, J.-H. Cha, L. Dure, F. Gomez, M. Ramos, J. Sanchez-Ramos, S. Snodgrass, M. de Young, N. Wexler, C. Moscowitz, G. Penchaszadeh, H. MacFarlane, M. Anderson, B. Jenkins, J. Srinidhi, G. Barnes, J. Gusella, M. MacDonald

ABSTRACT

The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37–86 repeat units, whereas normal chromosomes displayed 11–34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis. More... »

PAGES

387-392

Journal

TITLE

Nature Genetics

ISSUE

4

VOLUME

4

Author Affiliations

  • Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA
  • Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA
  • Department of Biology, University of Rome “Tor Vergata”, Rome, Italy
  • Instituto di Medicina Sperimentale, CNR, Rome, Italy
  • Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA
  • Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA
  • Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA
  • Department of Neurology, University of Rochester Medical Center, 14642, Rochester, New York, USA
  • Department of Neurology, Robert Wood Johnson Medical School, 08903, New Brunswick, New Jersey, USA
  • Department of Psychiatry, Emory University School of Medicine, 30306, Atlanta, Georgia, USA
  • Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA
  • Universidad de Zulia, Maracaibo, Venezuela
  • Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA
  • Baylor University College of Medicine, 77009, Houston, Texas, USA
  • Neuroscience Laboratory, Kennedy Kreiger Institute, 21205, Baltimore, Maryland, USA
  • Aguirre 621-7A, Capital 1414, Buenos Aires, Argentina
  • Servicio de Genetica, Hospital Virgen del Camino, 31008, Pamplona, Spain
  • Department of Neurology, University of Miami, 33136, Miami, Florida, USA
  • Pediatric Neurology, University of Mississippi Medical Center, 39216, Jackson, Mississippi, USA
  • Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA
  • Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0893-387

    DOI

    http://dx.doi.org/10.1038/ng0893-387

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1048577444

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8401587


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