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Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease

Nature Genetics volume 2, pages 216–222 (1992)Cite this article

Abstract

No detectable rearrangements involving chromosome 4p16.3 have been observed in patients with Huntington's disease (HD). New mutations for HD could involve structural alterations which might aid the localization of the defective gene. We have reinvestigated a well documented sporadic case of HD. DNA haplotyping with markers between D4S10 and the telomeric locus D4S141 reveals a recombination event in one chromosome of the sporadic HD patient. The site of recombination maps within a 50 kilobase (kb) region, about 700 kb from the 4p telomere. Based on the extremely low HD mutation rate and significantly decreased recombination in the distal region of 4p, we hypothesize a direct link between the site of the recombination and HD in this patient.

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Authors and Affiliations

  1. Department of Medical Genetics, University of British Columbia, 2125 East Mall, Vancouver, V6T 1Z4, Canada

    Bernhard Weber, Olaf Riess, Susan Andrew, Colin Collins, Rona Graham, Jane Theilmann & Michael R. Hayden

  2. Institut für Humangenetik und Anthropologie, Universität Freiburg, Breisacherstrasse 33, D-7800, Freiburg, Germany

    Gerhard Wolff

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  1. Bernhard Weber
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  2. Olaf Riess
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  4. Susan Andrew
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  8. Michael R. Hayden
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Weber, B., Riess, O., Wolff, G. et al. Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease. Nat Genet 2, 216–222 (1992). https://doi.org/10.1038/ng1192-216

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