Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease |
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| Authors: | V J Buckle N Fujita A S Ryder-Cook J M Derry P J Barnard R V Lebo P R Schofield P H Seeburg A N Bateson M G Darlison |
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| Affiliation: | Nuffield Department of Clinical Medicine, University of Oxford, England. |
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| 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. |
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