title: Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
abstract: 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.
authors.affiliation: Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Christoph
authors.initials: C
authors.lastname: Kamm
authors.affiliation: Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Joanne
authors.initials: J
authors.lastname: Leung
authors.affiliation: Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
authors.forename: Soni
authors.initials: S
authors.lastname: Joseph
authors.affiliation: Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Illinois, USA.
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.affiliation: Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
authors.forename: Alison
authors.initials: A
authors.lastname: Brashear
authors.affiliation: Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Xandra O
authors.initials: XO
authors.lastname: Breakefield
authors.affiliation: Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
mesh_terms: 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*
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D012333:RNA, Messenger; D064529:Receptor, Metabotropic Glutamate 5; D018094:Receptors, Metabotropic Glutamate