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

Abstract

Hybridization of {GABAA} receptor probes to human chromosomes in situ and to {DNA} from sorted human chromosomes has localized the genes encoding a β subunit and three isoforms of the a subunit. The α2 and β genes are both located on chromosome 4 in bands p12–p13 and may be adjacent. The α1 gene is on chromosome 5 (bands q34–q35) and the α3 gene is on the X chromosome. The a3 locus was mapped also on the mouse X chromosome using genetic break-point analysis in an interspecies pedigree. The combined results locate the human a3 gene within band Xg28, in a location that makes it a candidate gene for the X-linked form of manic depression