Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.

Kamm, Christoph; Leung, Joanne; Joseph, Soni; Dobyns, William B; Brashear, Alison; Breakefield, Xandra O; Ozelius, Laurie J

Kamm, Christoph; Leung, Joanne; Joseph, Soni; Dobyns, William B; Brashear, Alison; Breakefield, Xandra O; Ozelius, Laurie J.

Afiliação

Kamm C; Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Leung J; Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Joseph S; Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.
Dobyns WB; Department of Human Genetics, Neurology and Pediatrics, University of Chicago, Illinois, USA.
Brashear A; Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Breakefield XO; Molecular Neurogenetics Unit, Departments of Neurology and Radiology and Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Ozelius LJ; Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.

Mov Disord ; 19(7): 845-847, 2004 Jul.

Article em En | MEDLINE | ID: mdl-15254951

ABSTRACT

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.

Assuntos

Cromossomos Humanos Par 19/genética; Distonia/genética; Transtornos Parkinsonianos/genética; Receptores de Glutamato Metabotrópico/genética; Primers do DNA/genética; Éxons/genética; Expressão Gênica; Ligação Genética; Marcadores Genéticos; Genótipo; Humanos; Íntrons/genética; Mutação Puntual/genética; Reação em Cadeia da Polimerase; RNA Mensageiro/genética; Receptor de Glutamato Metabotrópico 5

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 19 / Receptores de Glutamato Metabotrópico / Transtornos Parkinsonianos / Distonia Limite: Humans Idioma: En Ano de publicação: 2004 Tipo de documento: Article

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