Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
By examining two previously described families with rapid-onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations.
Kamm
Christoph
C
Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Leung
Joanne
J
Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Joseph
Soni
S
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Dobyns
William B
WB
Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Illinois, USA.
Brashear
Alison
A
Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Breakefield
Xandra O
XO
Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Ozelius
Laurie J
LJ
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004421:Dystonia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D015870:Gene Expression; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate / Q000235:genetics*
D017931:DNA Primers; D005819:Genetic Markers; D012333:RNA, Messenger; D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate