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

Neuron. 1989 Nov;3(5):647-54. doi: 10.1016/0896-6273(89)90275-4.


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.

MeSH terms

  • Animals
  • Chromosome Mapping*
  • DNA
  • Genetic Diseases, Inborn / genetics*
  • Humans
  • Lymphocytes / physiology
  • Mice
  • Nucleic Acid Hybridization
  • Receptors, GABA-A / genetics*


  • Receptors, GABA-A
  • DNA