Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.
Genetic haplotypes at five marker loci that are closely linked to the DYT1 gene on chromosome 9q were determined in 10 Ashkenazi Jewish patients with focal hand dystonia (eight with musician's cramp, two with writer's cramp). The founder haplotype associated with > 90% of cases generalized dystonia in the Ashkenazi Jewish population could not be constructed from any of the twenty chromosomes. Potential haplotypes were determined, and no common haplotype was discerned in these patients. These findings argue against a role for the founder mutation in the DYT1 gene in the etiology of occupational hand dystonia in this ethnic group. Further, if the DYT1 gene is involved in these later onset dystonias, there is no evidence for a common mutation in the Ashkenazic Jewish population. It appears that excessive, repetitive use, possibly in combination with ulnar neuropathy, may serve as the inciting cause of some focal dystonias.
Gasser
T
T
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.
Bove
C M
CM
Ozelius
L J
LJ
Hallett
M
M
Charness
M E
ME
Hochberg
F H
FH
Breakefield
X O
XO
D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004252:DNA Mutational Analysis; D004422:Dystonia Musculorum Deformans / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers / Q000235:genetics; D006236:Handwriting; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000235:genetics*; D009146:Music; D009784:Occupational Diseases / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic
D005819:Genetic Markers