Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia.
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.
Steinberger
Daniela
D
Institut für Humangenetik, Justus-Liebig Universität, Giessen, Germany. daniela.steinberger@bioscientia.de
Trübenbach
Jutta
J
Zirn
Birgit
B
Leube
Barbara
B
Wildhardt
Gabriele
G
Müller
Ulrich
U
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
D017931:DNA Primers; D004295:Dihydroxyphenylalanine; D006136:GTP Cyclohydrolase