Journal
NEUROGENETICS
Volume 8, Issue 1, Pages 51-55Publisher
SPRINGER
DOI: 10.1007/s10048-006-0069-6
Keywords
dopa-responsive dystonia; DRD; GCH1 deletions; MLPA; qPCR
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We applied multiple ligation-dependent probe amplification (MLPA) to patients from three families with characteristic dopa-responsive dystonia (DRD) but no base change in the gene GCH1. We found a complete deletion of GCH1 in affected members of family 1, and partial deletions in affected individuals of family 2 (exons 4-6) and of family 3 (exons 2-6). The findings were confirmed by quantitative real-time PCR. Our investigations demonstrate the utility of MLPA for routine deletion analysis of GCH1 in DRD patients with no sequence changes in this gene.
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