LINKAGE MAPPING OF DOPA-RESPONSIVE DYSTONIA (DRD) TO CHROMOSOME 14Q

被引：156
作者：
NYGAARD, TG
WILHELMSEN, KC
RISCH, NJ
BROWN, DL
TRUGMAN, JM
GILLIAM, TC
FAHN, S
WEEKS, DE
机构：
[1] YALE UNIV,SCH MED,DEPT EPIDEMIOL & PUBL HLTH,NEW HAVEN,CT 06510
[2] YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06510
[3] UNIV PITTSBURGH,DEPT HUMAN GENET,PITTSBURGH,PA 15261
[4] UNIV VIRGINIA,HLTH SCI CTR,DEPT NEUROL,CHARLOTTESVILLE,VA 22908
[5] COLUMBIA PRESBYTERIAN MED CTR,DEPT PSYCHIAT,NEW YORK,NY 10032
[6] COLUMBIA PRESBYTERIAN MED CTR,DEPT GENET & DEV,NEW YORK,NY 10032
来源：
NATURE GENETICS | 1993年 / 5卷 / 04期
关键词：
D O I：
10.1038/ng1293-386
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Dopa-responsive dystonia (DRD) is an autosomal-dominant neurological disorder which appears to result from a genetically determined deficiency of striatal dopamine. Pathological evidence suggests that this may be due to the establishment of a reduced number of dopaminergic nerve terminals in the striatum, or to an excessive reduction (pruning) of these terminals in early development. We have mapped the DRD gene to chromosome 14 by linkage analysis in 3 families with a maximum 2-point lod score of 4.67 at 8.6 centiMorgans from D14S63; maximum multipoint lod scores >6 were obtained for the intervals D14S47-D14S52 and D14S52-D14S63. The flanking loci D14S47 and D14S63 define a region of about 22 cM as containing the DRD gene.
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页码：386 / 391
页数：6
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