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Utility of MLPA in deletion analysis of |
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| Authors: | Daniela Steinberger Jutta Trübenbach Birgit Zirn Barbara Leube Gabriele Wildhardt Ulrich Müller |
| Affiliation: | 1.Institut für Humangenetik,Justus-Liebig Universit?t,Gie?en,Germany;2.Bioscientia Zentrum für Humangenetik,Bioscientia Institut für medizinische Diagnostik,Ingelheim,Germany;3.Institut für Humangenetik und Anthropologie,Universit?tsklinikum Düsseldorf,Düsseldorf,Germany |
| 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: | Dopa-responsive dystonia DRD GCH1 deletions MLPA qPCR |
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