title: Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.
abstract: Hybridization of GABAA receptor probes to human chromosomes in situ and to DNA from sorted human chromosomes has localized the genes encoding a beta subunit and three isoforms of the alpha subunit. The alpha 2 and beta genes are both located on chromosome 4 in bands p12-p13 and may be adjacent. The alpha 1 gene is on chromosome 5 (bands q34-q35) and the alpha 3 gene is on the X chromosome. The alpha 3 locus was mapped also on the mouse X chromosome using genetic break-point analysis in an interspecies pedigree. The combined results locate the human alpha 3 gene within band Xq28, in a location that makes it a candidate gene for the X-linked form of manic depression.
authors.affiliation: Nuffield Department of Clinical Medicine, University of Oxford, England.
authors.forename: V J
authors.initials: VJ
authors.lastname: Buckle
authors.forename: N
authors.initials: N
authors.lastname: Fujita
authors.forename: A S
authors.initials: AS
authors.lastname: Ryder-Cook
authors.forename: J M
authors.initials: JM
authors.lastname: Derry
authors.forename: P J
authors.initials: PJ
authors.lastname: Barnard
authors.forename: R V
authors.initials: RV
authors.lastname: Lebo
authors.forename: P R
authors.initials: PR
authors.lastname: Schofield
authors.forename: P H
authors.initials: PH
authors.lastname: Seeburg
authors.forename: A N
authors.initials: AN
authors.lastname: Bateson
authors.forename: M G
authors.initials: MG
authors.lastname: Darlison
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D004247:DNA; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D051379:Mice; D009693:Nucleic Acid Hybridization; D011963:Receptors, GABA-A / Q000235:genetics*
chemical_list: D011963:Receptors, GABA-A; D004247:DNA