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X-linked dystonia-parkinsonism (XDP) is a recessive disorder characterized by generalized dystonia with some patients exhibiting parkinsonism. The disease gene, DYT3, is located between DXS453 (DXS993) and DXS559, and strongest linkage disequilibrium is found distal to DXS7117 and proximal to DXS559. We have isolated and analyzed four novel polymorphic markers between DXS7117 and DXS559 and, by haplotype analysis, have narrowed the candidate interval to <350 kb. A sequence-ready contig of 700 kb has been constructed spanning DXS7117 to DXS559 and is composed of 35 PACs, BACs, and cosmids. Nine genes and novel ESTs have been mapped into this contig, and mutations in the coding regions and intron-exon borders of two genes have been excluded as the cause of XDP. Several of the other genes and ESTs located within the contig code for proteins implicated in normal brain development and function and are candidates for DYT3.

Original publication

DOI

10.1006/geno.1999.5929

Type

Journal article

Journal

Genomics

Publication Date

15/09/1999

Volume

60

Pages

320 - 329

Keywords

Chromosome Mapping, Contig Mapping, Cosmids, Dystonia, Expressed Sequence Tags, Genetic Linkage, Genetic Markers, Humans, Linkage Disequilibrium, Parkinsonian Disorders, Physical Chromosome Mapping, Syndrome, Tandem Repeat Sequences, X Chromosome