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 | |
| State | Published - Jan 1 1989 |
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ASJC Scopus subject areas
- Genetics
Cite this
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
}
TY - JOUR
T1 - Huntington disease
T2 - No evidence for locus heterogeneity
AU - Conneally, P. Michael
AU - Haines, Jonathan L.
AU - Tanzi, Rudolf E.
AU - Wexler, Nancy S.
AU - Penchaszadeh, Graciela K.
AU - Harper, Peter S.
AU - Folstein, Susan E.
AU - Cassiman, Jean J.
AU - Myers, Richard H.
AU - Young, Anne B.
AU - Hayden, Michael R.
AU - Falek, Arthur
AU - Tolosa, Eduardo S.
AU - Crespi, Sebastian
AU - Di Maio, Luigi
AU - Holmgren, Gosta
AU - Anvret, Maria
AU - Kanazawa, Ichiro
AU - Gusella, James F.
PY - 1989/1/1
Y1 - 1989/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0024709641&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024709641&partnerID=8YFLogxK
U2 - 10.1016/0888-7543(89)90062-1
DO - 10.1016/0888-7543(89)90062-1
M3 - Article
C2 - 2571579
AN - SCOPUS:0024709641
VL - 5
SP - 304
EP - 308
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 2
ER -