Huntington disease: No evidence for locus heterogeneity

P. Michael Conneally, Jonathan L. Haines, Rudolf E. Tanzi, Nancy S. Wexler, Graciela K. Penchaszadeh, Peter S. Harper, Susan E. Folstein, Jean J. Cassiman, Richard H. Myers, Anne B. Young, Michael R. Hayden, Arthur Falek, Eduardo S. Tolosa, Sebastian Crespi, Luigi Di Maio, Gosta Holmgren, Maria Anvret, Ichiro Kanazawa, James F. Gusella

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


A total of 63 families with Huntington disease (HD) were examined for linkage between HD and G8 (D4S10). The families included 57 Caucasian, four Black American, and two Japanese. The combined maximum lod score was 87.69 at θ = 0.04 (99% confidence interval 0.018-0.071). The maximum frequency of recombination was 0.03 in males and 0.05 in females. Fifty-seven families gave positive lod scores; five small families gave mildly negative lod scores. The maximum likelihood estimate of α, the proportion of linked loci, was 1.0 with a lower 99% confidence interval of 0.88. These data suggest that there is only one HD locus, although a second rare locus cannot be ruled out.

Original languageEnglish (US)
Pages (from-to)304-308
Number of pages5
Issue number2
StatePublished - Aug 1989
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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