Evidence for locus heterogeneity in autosomal dominant torsion dystonia
| Autor: | C.D. Marsden, Mary B. Davis, A. E. Harding, Farhan Jalees Ahmad, H. M. Waddy, C.A. Oley |
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| Rok vydání: | 1993 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Adolescent Genetic Linkage Dystonia Musculorum Deformans Chromosome 9 Locus (genetics) Biology Torsion dystonia Gene mapping Locus heterogeneity otorhinolaryngologic diseases Genetics medicine Humans Chromosome 13 Genes Dominant Polymorphism Genetic Chromosomes Human Pair 13 Chromosome Mapping medicine.disease Penetrance Pedigree body regions Idiopathic Torsion Dystonia Female Chromosomes Human Pair 9 psychological phenomena and processes |
| Zdroj: | Genomics. 15(1) |
| ISSN: | 0888-7543 |
| Popis: | Idiopathic torsion dystonia (ITD) is most commonly an autosomal dominant disorder with reduced penetrance and variable expression. A locus on the distal long arm of chromosome 9 has been identified in one large non-Jewish and several Jewish families in the United States. Linkage analysis in a large Australian kindred with ITD, also containing two patients with Wilson's disease, excludes a locus for ITD in chromosome 9q34 or the region of chromosome 13 containing the Wilson disease gene. This study provides evidence for locus heterogeneity in autosomal dominant ITD and also gives additional information on gene order in chromosome 9q. |
| Databáze: | OpenAIRE |
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