Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia
- 17 November 2006
- journal article
- Published by Springer Nature in neurogenetics
- Vol. 8 (1) , 51-55
- https://doi.org/10.1007/s10048-006-0069-6
Abstract
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.Keywords
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