Confirmation of the localization of the human GABAA receptor alpha 1-subunit gene (GABRA1) to distal 5q by linkage analysis.

The GABAA receptor is the major inhibitory neurotransmitter receptor in the mammalian brain. To date, 14 genes that encode subunits of this receptor have been identified; these appear to be scattered throughout the human genome and are under investigation as candidate loci for a number of neurological and psychiatric disorders. We report here a highly polymorphic (dC-dA)n repeat within the human alpha 1-subunit gene (GABRA1). Typing of this marker in the Centre d'Etude du Polymorphisme Humain (CEPH) panel of families confirms the previous assignment of the GABRA1 locus to the distal portion of chromosome 5q by demonstrating linkage to the markers CRI-L45 (D5S61) (Zmax = 11.00, theta max = 0.15), CRI-V1022 (D5S54) (Zmax = 7.25, theta max = 0.20), and CRI-P148 (D5S72) (Zmax = 5.71, theta max = 0.24).

[1]  A. Draguhn,et al.  Structural and functional characterization of the gamma 1 subunit of GABAA/benzodiazepine receptors. , 1990, The EMBO journal.

[2]  P. Seeburg,et al.  Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease , 1989, Neuron.

[3]  A. Poustka,et al.  The Murine GABAA Receptor δ-Subunit Gene: Structure and Assignment to Human Chromosome 1 , 1990 .

[4]  Hannah Monyer,et al.  Cerebellar GABAA receptor selective for a behavioural alcohol antagonist , 1990, Nature.

[5]  K. Falls,et al.  A genetic linkage map of human chromosome 5 with 60 RFLP loci. , 1991, Genomics.

[6]  A. Lasham,et al.  γ‐Aminobutyric AcidA Receptor Heterogeneity Is Increased by Alternative Splicing of a Novel β‐Subunit Gene Transcript , 1991, Journal of neurochemistry.

[7]  R. Olsen,et al.  Molecular biology of GABAA receptors , 1990, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[8]  V. McKusick Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes , 1983 .

[9]  P. Seeburg,et al.  Sequence and expression of human GABAA receptor α1 and β1 subunits , 1989 .

[10]  J. Weber,et al.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. , 1989, American journal of human genetics.

[11]  E. Kirkness,et al.  Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. , 1991, American journal of human genetics.

[12]  J. Sikela,et al.  A novel γ subunit of the GABAA receptor identified using the polymerase chain reaction , 1991 .

[13]  K. Mullis,et al.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. , 1985, Science.

[14]  J. Ott,et al.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. , 1985, American journal of human genetics.

[15]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.

[16]  E. Kirkness,et al.  Genetic mapping of the beta 1 GABA receptor gene to human chromosome 4, using a tetranucleotide repeat polymorphism. , 1991, American journal of human genetics.

[17]  A. Hicks,et al.  Dinucleotide repeat polymorphism in the human X-linked GABAA receptor a3-subunit gene , 1991 .

[18]  D. Botstein,et al.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms. , 1980, American journal of human genetics.