The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q |
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| Authors: | J. Wahlströ m,L Ozelius,P. Kramer,M. Kyllerman,D. Schuback,L. Forsgren,G. Holmgren,U. Drugge,G. Sanner,S. Fahn,X. O. Breakefield |
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| Affiliation: | Department of Clinical Genetics, East Hospital, Göteborg, Sweden;Department of Pediatrics II, East Hospital, Göteborg, Sweden;Molecular Neurogenetics Unit, Neuroscience Center (Neurology), Massachusetts General Hospital, Boston, USA;Neurology Department, Oregon Health Sciences University, Portland, USA;Department of Genetics, Harvard Medical School, Boston, USA;Neuroscience Program, Harvard Medical School, Boston, USA;Department of Neurology, University of Umeá, Sweden;Department of Clinical Genetics, University of Umeá, Sweden;Department of Sociology, University of Umeá, Sweden;Department of Child Rehabilitation, Karlstad Hospital, Sweden;Dystonia Clinical Research Center and Neurology Department. Columbia University, College of Physicians and Surgeons, New York, USA;MD, Department of Clinical Genetics, East Hospital, S 416 85 Göteborg, Sweden |
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| Abstract: | A gene (DYT1) for susceptibility to early-onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32-q34 in a 6–7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < −2.00 from a two-point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans. |
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| Keywords: | chromosome 9 linkage analysis torsion dystonia |
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