EVIDENCE FOR LOCUS HETEROGENEITY IN AUTOSOMAL DOMINANT TORSION DYSTONIA

被引:51
作者
AHMAD, F [1 ]
DAVIS, MB [1 ]
WADDY, HM [1 ]
OLEY, CA [1 ]
MARSDEN, CD [1 ]
HARDING, AE [1 ]
机构
[1] MATER MISERICORDIAE MOTHERS HOSP,BRISBANE,AUSTRALIA
关键词
D O I
10.1006/geno.1993.1003
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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. © 1993 Academic Press. All rights reserved.
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页码:9 / 12
页数:4
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