Identification of SNPs in human gamma aminobutyric acid A receptor gamma 2gene

Gamma aminobutyric acid (GABA) is a major inhibitory neurotransmitter. Beca use of its importance and diverse functions, studies of single nucleotide p olymorphisms in the GABA receptor genes are of great significance, which ma y produce useful molecular markers for genetic analysis of neurological dis ease, and possibly lead to the discovery of pathogenic mutations. We identi fied eleven SNPs in the entire exon regions, immediate intron regions and p romoter region of human GABA receptor gamma2 gene by direct sequencing. In this discovery, 2 non-synonymous cSNPs and 1 splicing variant are found.