Huntington's disease: Two families with differing clinical features show linkage to the G8 probe

Susan E. Folstein, John A. Phillips, Deborah A. Meyers, Gary A. Chase, Margaret H. Abbott, Mary L. Franz, Pamela G. Waber, Haig H. Kazazian, P. Michael Conneally, Wendy Hobbs, Rudolph Tanzi, Ann Faryniarz, Kerrin Gibbons, James Gusella

Research output: Contribution to journalReview article

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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 (US)
Pages (from-to)776-779
Number of pages4
JournalScience
Volume229
Issue number4715
DOIs
StatePublished - 1985

ASJC Scopus subject areas

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    Folstein, S. E., Phillips, J. A., Meyers, D. A., Chase, G. A., Abbott, M. H., Franz, M. L., Waber, P. G., Kazazian, H. H., Conneally, P. M., Hobbs, W., Tanzi, R., Faryniarz, A., Gibbons, K., & Gusella, J. (1985). Huntington's disease: Two families with differing clinical features show linkage to the G8 probe. Science, 229(4715), 776-779. https://doi.org/10.1126/science.2992086