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

doi:10.1016/0888-7543(89)90062-1

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

Psychiatry & Behavioral Sciences

Research output: Contribution to journal › Article

34 Scopus citations

Abstract

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 language	English
Pages (from-to)	304-308
Number of pages	5
Journal	Genomics
Volume	5
Issue number	2
DOIs	https://doi.org/10.1016/0888-7543(89)90062-1
State	Published - Jan 1 1989

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ASJC Scopus subject areas

Genetics

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Conneally, P. M., Haines, J. L., Tanzi, R. E., Wexler, N. S., Penchaszadeh, G. K., Harper, P. S., Folstein, S. E., Cassiman, J. J., Myers, R. H., Young, A. B., Hayden, M. R., Falek, A., Tolosa, E. S., Crespi, S., Di Maio, L., Holmgren, G., Anvret, M., Kanazawa, I., & Gusella, J. F. (1989). Huntington disease: No evidence for locus heterogeneity. Genomics, 5(2), 304-308. https://doi.org/10.1016/0888-7543(89)90062-1

Huntington disease : No evidence for locus heterogeneity. / Conneally, P. Michael; Haines, Jonathan L.; Tanzi, Rudolf E.; Wexler, Nancy S.; Penchaszadeh, Graciela K.; Harper, Peter S.; Folstein, Susan E.; Cassiman, Jean J.; Myers, Richard H.; Young, Anne B.; Hayden, Michael R.; Falek, Arthur; Tolosa, Eduardo S.; Crespi, Sebastian; Di Maio, Luigi; Holmgren, Gosta; Anvret, Maria; Kanazawa, Ichiro; Gusella, James F.

In: Genomics, Vol. 5, No. 2, 01.01.1989, p. 304-308.

Research output: Contribution to journal › Article

Conneally, PM, Haines, JL, Tanzi, RE, Wexler, NS, Penchaszadeh, GK, Harper, PS, Folstein, SE, Cassiman, JJ, Myers, RH, Young, AB, Hayden, MR, Falek, A, Tolosa, ES, Crespi, S, Di Maio, L, Holmgren, G, Anvret, M, Kanazawa, I & Gusella, JF 1989, 'Huntington disease: No evidence for locus heterogeneity', Genomics, vol. 5, no. 2, pp. 304-308. https://doi.org/10.1016/0888-7543(89)90062-1

Conneally, P. Michael ; Haines, Jonathan L. ; Tanzi, Rudolf E. ; Wexler, Nancy S. ; Penchaszadeh, Graciela K. ; Harper, Peter S. ; Folstein, Susan E. ; Cassiman, Jean J. ; Myers, Richard H. ; Young, Anne B. ; Hayden, Michael R. ; Falek, Arthur ; Tolosa, Eduardo S. ; Crespi, Sebastian ; Di Maio, Luigi ; Holmgren, Gosta ; Anvret, Maria ; Kanazawa, Ichiro ; Gusella, James F. / Huntington disease : No evidence for locus heterogeneity. In: Genomics. 1989 ; Vol. 5, No. 2. pp. 304-308.

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10.1016/0888-7543(89)90062-1