Huntington disease: no evidence for locus heterogeneity.
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 theta = 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 alpha, 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.
Conneally
P M
PM
Department of Medical Genetics, Indiana University Medical Center, Indianapolis 46223.
Haines
J L
JL
Tanzi
R E
RE
Wexler
N S
NS
Penchaszadeh
G K
GK
Harper
P S
PS
Folstein
S E
SE
Cassiman
J J
JJ
Myers
R H
RH
Young
A B
AB
D003201:Computers; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008126:Lod Score; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D005819:Genetic Markers