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

Buckle, Veronica J.; Fujita, Norihisa; Ryder−Cook, Allan S.; Derry, Jonathan M. J.; Barnard, Pene J.; Lebo, Roger V.; Schofield, Peter R.; Seeburg, Peter H.; Bateson, Alan N.; Darlison, Mark G.; Barnard, Eric A.

doi:10.1016/0896-6273(89)90275-4

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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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https://www.sciencedirect.com/science/article/pii/0896627389902754/pdf?md5=76725aa0cb6e2d7320f58a078db8885a&pid=1-s2.0-0896627389902754-main.pdf
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https://doi.org/10.1016/0896-6273(89)90275-4
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引用

Buckle, V. J., Fujita, N., Ryder−Cook, A. S., Derry, J. M. J., Barnard, P. J., Lebo, R. V., Schofield, P. R., Seeburg, P. H., Bateson, A. N., Darlison, M. G., & Barnard, E. A. (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.

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

要旨

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.