The Huntington's disease candidate region exhibits many different haplotypes (original) (raw)

• Article
• Published: 01 May 1992
• Andrea Novelletto2,
• Carol Lin1,
• Dan Tagle3,
• Glenn Barnes1,
• Gillian Bates4,
• Sherry Taylor1,
• Bernice Allitto1,
• Michael Altherr5,
• Richard Myers6,
• Hans Lehrach4,
• Francis S. Collins3,
• John J. Wasmuth5,
• Marina Frontali7 &
• …
• James F. Gusella1

Nature Genetics volume 1, pages 99–103 (1992)Cite this article

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Abstract

Analysis of 78 Huntington's disease (HD) chromosomes with multi–allele markers revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The most frequent haplotype, accounting for about one third of disease chromosomes, suggests that the disease gene is between D4S182 and D4S180. However, the paucity of an expected class of chromosomes that can be related to this major haplotype by assuming single crossovers may reflect the operation of other mechanisms in creating haplotype diverstiy. Some of these mechanisms sustain alternative scenarios that do not require a multiple mutational origin for HD and/or its positioning between D4S182 and DAS180.

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References

1. Martin, J.B. & Gusella, J.F. New Engl. J. Med. 315, 1267–1276 (1986).
   Article CAS PubMed Google Scholar
2. Gusella, J.F. Adv. hum. Genet. 20, 125–151 (1991).
   Article CAS PubMed Google Scholar
3. MacDonald, M.E. et al. Neuron 3, 183–190 (1989).
   Article CAS PubMed Google Scholar
4. Snell, R.G. et al. J. med. Genet. 26, 673–675 (1989).
   Article CAS PubMed PubMed Central Google Scholar
5. Theilmann, J. et al. J. med. Genet. 26, 676–681 (1989).
   Article CAS PubMed PubMed Central Google Scholar
6. Novelletto, A. et al. Am. J. med. Genet. 40, 374–376 (1991).
   Article CAS PubMed Google Scholar
7. Adam, S. et al. Am. J. hum. Genet. 48, 595–603 (1991).
   CAS PubMed PubMed Central Google Scholar
8. MacDonald, M.E. et al. Am. J. hum. Genet. 49, 723–734 (1991).
   CAS PubMed PubMed Central Google Scholar
9. Kerem, B. et al. Science 245, 1073–1080 (1989).
   Article CAS PubMed Google Scholar
10. Lin, C.S. et al. Somat. Cell molec. Genet. 17, 481–488 (1991).
    Article CAS PubMed Google Scholar
11. Bates, G.P. et al. Am. J. hum. Genet. 49, 7–16 (1991).
    CAS PubMed PubMed Central Google Scholar
12. Taylor, S.A.M., Barnes, G.T., MacDonald, M.E. & Gusella, J.F. Nucleic Acids Res. (in the press).
13. Allitto, B.A. et al. Nucleic Acids Res. 19, 4015 (1991).
    Article CAS PubMed PubMed Central Google Scholar
14. Wasmuth, J.J. et al. Nature 332, 734–736 (1988).
    Article CAS PubMed Google Scholar
15. Stevens, D. & Parsonage, M. J. Neurol. Neurosurg. Psychiatry 32, 140–143 (1969).
    Article CAS PubMed PubMed Central Google Scholar
16. Shaw, M. & Caro, A.J. J. med. Genet. 19, 161–167 (1982).
    Article CAS PubMed PubMed Central Google Scholar
17. Seizinger, B.R., Martuza, R.L. & Gusella, J.F. Nature 322, 664–667 (1986).
    Article Google Scholar
18. Anderson, M.A. & Gusella, J.F. In Vitro 11, 856–858 (1984).
    Article Google Scholar
19. Gusella, J.F. et al. Proc. natn. Acad. Sci. U.S.A. 76, 5239–5243 (1979).
    Article CAS Google Scholar
20. Gusella, J.F. et al. Nature 306, 234–238 (1983).
    Article CAS PubMed Google Scholar
21. Feinberg, A.P. & Vogelstein, B. Anal. Biochem. 137, 266–267 (1984).
    Article CAS PubMed Google Scholar
22. Whaley, W.L. et al. Somat. Cell molec. Genet. 17, 83–91 (1991).
    Article CAS PubMed Google Scholar

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Authors and Affiliations

1. Neurogenetics Laboratory, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts, 02114, USA
   Marcy E. MacDonald, Carol Lin, Glenn Barnes, Sherry Taylor, Bernice Allitto & James F. Gusella
2. Dipartimento di Biologia, Universita' Tor Vergata, Roma, Italy
   Andrea Novelletto
3. Department of Internal Medicine and Human Genetics, and the Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan, 48109, USA
   Dan Tagle & Francis S. Collins
4. Imperial Cancer Research Fund, Lincoln's Inn Fields, London, WC2A 3PX, UK
   Gillian Bates & Hans Lehrach
5. Department of Biological Chemistry, University of California, Irvine, California, 92717, USA
   Michael Altherr & John J. Wasmuth
6. Department of Neurology, Boston University Medical School, 80 East Concord Street, Boston, Massachusetts, 02118, USA
   Richard Myers
7. Istituto di Medicina Sperimentale, CNR, Roma, Italy
   Marina Frontali

Authors

1. Marcy E. MacDonald
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2. Andrea Novelletto
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3. Carol Lin
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4. Dan Tagle
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5. Glenn Barnes
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6. Gillian Bates
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7. Sherry Taylor
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8. Bernice Allitto
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9. Michael Altherr
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10. Richard Myers
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11. Hans Lehrach
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12. Francis S. Collins
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13. John J. Wasmuth
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14. Marina Frontali
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15. James F. Gusella
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MacDonald, M., Novelletto, A., Lin, C. et al. The Huntington's disease candidate region exhibits many different haplotypes.Nat Genet 1, 99–103 (1992). https://doi.org/10.1038/ng0592-99

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• Received: 27 January 1992
• Accepted: 20 March 1992
• Issue Date: 01 May 1992
• DOI: https://doi.org/10.1038/ng0592-99

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