Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

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...

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Bibliographic Details
Published in:Genome research 1997-05, Vol.7 (5), p.483-494
Main Authors: Ozelius, L J, Hewett, J, Kramer, P, Bressman, S B, Shalish, C, de Leon, D, Rutter, M, Risch, N, Brin, M F, Markova, E D, Limborska, S A, Ivanova-Smolenskaya, I A, McCormick, M K, Fahn, S, Buckler, A J, Gusella, J F, Breakefield, X O
Format: Article
Language:English
Subjects:
Adult
Chromosome Mapping - methods
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 9
Cosmids - genetics
Dystonia Musculorum Deformans - genetics
Electrophoresis, Gel, Pulsed-Field
Genetic Markers
Haplotypes
Humans
Jews - genetics
Linkage Disequilibrium
Pedigree
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid
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Summary: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 the DYT1 gene is within a 150 kb region between the loci D9S2161 and D9S63.
ISSN:1088-9051
1549-5469
DOI:10.1101/gr.7.5.483