RT Journal
A1 Ozelius, Laurie J.
A1 Hewett, Jeffrey
A1 Kramer, Patricia
A1 Bressman, Susan B.
A1 Shalish, Christo
A1 de Leon, Deborah
A1 Rutter, Marc
A1 Risch, Neil
A1 Brin, Mitchell F.
A1 Markova, Elena D.
A1 Limborska, Svetlana A.
A1 Ivanova-Smolenskaya, Irina A.
A1 McCormick, Mary Kay
A1 Fahn, Stanley
A1 Buckler, Alan J.
A1 Gusella, James F.
A1 Breakefield, Xandra O.
T1 Fine Localization of the Torsion Dystonia Gene (DYT1) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium
JF Genome Research 
JO Genome Research 
YR 1997 
FD May 01 
VO 7 
IS 5 
SP 483 
OP 494 
DO 10.1101/gr.7.5.483 
UL http://genome.cshlp.org/content/7/5/483.abstract 
AB The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%–40%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the AJ population placed the DYT1 gene in a 2-cM region between the loci D9S62a and ASS. A YAC contig has now been created spanning 600 kb of this region including D9S62a. The location of the DYT1 gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation. The most likely location of theDYT1 gene is within a 150 kb region between the lociD9S2161 and D9S63.