title: Systematic screening for mutations in the glycine receptor alpha2 subunit gene (GLRA2) in patients with schizophrenia and other psychiatric diseases.
abstract: The glycine receptor, which is a member of the ligand-gated ion channel superfamily, mediates synaptic inhibition in the spinal cord and other brain regions. This superfamily has been implicated in the pathogenesis of schizophrenia and other psychiatric diseases. The complete coding sequence and splice junctions of the GLRA2 gene were scanned by DOVAM-S, a form of SSCP analysis with sufficient redundancy to detect virtually all mutations. Those analyses were performed in 113 patients with schizophrenia, and in pilot studies of patients with bipolar illness, alcoholism, puerperal psychosis, autism, and attention-deficit hyperactivity disorder (533 kb total scanned sequences). We detected three sequence changes in the coding region, all resulting in silent mutations: C894T in exon 5, C1134T in exon 7, and C1476T in exon 9. These do not alter the structure or the expression of the protein. It is unlikely that mutations in the coding region and splice junction of GLRA2 gene are associated with schizophrenia and other psychiatric diseases.
authors.affiliation: Department of Molecular Genetics, City of Hope National Medical Center/Beckman Research Institute, Duarte, California 91010-3000, USA.
authors.forename: J
authors.initials: J
authors.lastname: Feng
authors.forename: N
authors.initials: N
authors.lastname: Craddock
authors.forename: I R
authors.initials: IR
authors.lastname: Jones
authors.forename: E H
authors.initials: EH
authors.lastname: Cook
authors.forename: D
authors.initials: D
authors.lastname: Goldman
authors.forename: L L
authors.initials: LL
authors.lastname: Heston
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: L E
authors.initials: LE
authors.lastname: DeLisi
authors.forename: S S
authors.initials: SS
authors.lastname: Sommer
mesh_terms: D000437:Alcoholism / Q000235:genetics; D017398:Alternative Splicing / Q000235:genetics; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D001483:Base Sequence; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D009154:Mutation; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D021122:Protein Subunits; D011618:Psychotic Disorders / Q000235:genetics*; D011644:Puerperal Disorders / Q000235:genetics; D018009:Receptors, Glycine / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D017931:DNA Primers; C439504:GLRA2 protein, human; D021122:Protein Subunits; D018009:Receptors, Glycine