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Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease

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Seeburg,  Peter H.
Department of Molecular Neurobiology, Max Planck Institute for Medical Research, Max Planck Society;

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Citation

Buckle, V. J., Fujita, N., Ryder−Cook, A. S., Derry, J. M. J., Barnard, P. J., Lebo, R. V., et al. (1989). Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease. Neuron, 3(5), 647-654. doi:10.1016/0896-6273(89)90275-4.


Cite as: https://hdl.handle.net/21.11116/0000-0000-8505-4
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.