Hungtington's disease

Two families with differing clinical features show linkage to the G8 probe

S. E. Folstein, J. A. Phillips, D. A. Meyers

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)776-779
Number of pages4
JournalScience
Volume229
Issue number4715
DOIs
StatePublished - Oct 23 1985

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Huntington Disease
Age of Onset
Nervous System
Genetic Recombination
Psychiatry
Genotype
Confidence Intervals
Mutation

ASJC Scopus subject areas

  • General

Cite this

Hungtington's disease : Two families with differing clinical features show linkage to the G8 probe. / Folstein, S. E.; Phillips, J. A.; Meyers, D. A.

In: Science, Vol. 229, No. 4715, 23.10.1985, p. 776-779.

Research output: Contribution to journalArticle

Folstein, S. E. ; Phillips, J. A. ; Meyers, D. A. / Hungtington's disease : Two families with differing clinical features show linkage to the G8 probe. In: Science. 1985 ; Vol. 229, No. 4715. pp. 776-779.
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