title: Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
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.
authors.affiliation: Institut für Humangenetik, Justus-Liebig Universität, Giessen, Germany. daniela.steinberger@bioscientia.de
authors.forename: Daniela
authors.initials: D
authors.lastname: Steinberger
authors.forename: Jutta
authors.initials: J
authors.lastname: Trübenbach
authors.forename: Birgit
authors.initials: B
authors.lastname: Zirn
authors.forename: Barbara
authors.initials: B
authors.lastname: Leube
authors.forename: Gabriele
authors.initials: G
authors.lastname: Wildhardt
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
mesh_terms: D000368:Aged; D017931:DNA Primers; D004295:Dihydroxyphenylalanine / Q000627:therapeutic use; D004421:Dystonia / Q000188:drug therapy / Q000235:genetics*; D005091:Exons; D005260:Female; D006136:GTP Cyclohydrolase / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D004295:Dihydroxyphenylalanine; D006136:GTP Cyclohydrolase