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Science 23 August 1985: Vol. 229. no. 4715, pp. 776 - 779 DOI: 10.1126/science.2992086
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Articles
Science, Vol 229, Issue 4715, 776-779
Copyright © 1985 by American Association for the Advancement of Science
Huntington's disease: two families with differing clinical features show linkage to the G8 probe
SE Folstein,
JA Phillips 3rd,
DA Meyers,
GA Chase,
MH Abbott,
ML Franz,
PG Waber,
HH Kazazian Jr,
PM Conneally,
W Hobbs,
and
al. et
To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.
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