Nature Genetics
2, 216 - 222 (1992)
doi:10.1038/ng1192-216
Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's diseaseBernhard Weber1, Olaf Riess1, Gerhard Wolff2, Susan Andrew1, Colin Collins1, Rona Graham1, Jane Theilmann1
& Michael R. Hayden1
1Department of Medical Genetics, University of British Columbia, 2125 East Mall, Vancouver V6T 1Z4, Canada
2Institut für Humangenetik und Anthropologie, Universität Freiburg, Breisacherstrasse 33, D-7800 Freiburg, Germany 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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