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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.

Original publication

DOI

10.1016/0896-6273(89)90275-4

Type

Journal article

Journal

Neuron

Publication Date

11/1989

Volume

3

Pages

647 - 654

Keywords

Animals, Chromosome Mapping, DNA, Genetic Diseases, Inborn, Humans, Lymphocytes, Mice, Nucleic Acid Hybridization, Receptors, GABA-A