title: Identification of SNPs in human gamma aminobutyric acid A receptor gamma2 gene.
abstract: Gamma aminobutyric acid (GABA) is a major inhibitory neurotransmitter. Because of its importance and diverse functions, studies of single nucleotide polymorphisms in the GABA receptor genes are of great significance, which may produce useful molecular markers for genetic analysis of neurological disease, and possibly lead to the discovery of pathogenic mutations. We identified eleven SNPs in the entire exon regions, immediate intron regions and promoter region of human GABA receptor gamma2 gene by direct sequencing. In this discovery, 2 non-synonymous cSNPs and 1 splicing variant are found.
authors.affiliation: Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.
authors.forename: Z
authors.initials: Z
authors.lastname: Tan
authors.forename: S
authors.initials: S
authors.lastname: Jiang
authors.forename: Z
authors.initials: Z
authors.lastname: Lin
authors.forename: B
authors.initials: B
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Yu
authors.forename: G
authors.initials: G
authors.lastname: Feng
authors.forename: L
authors.initials: L
authors.lastname: He
mesh_terms: D019143:Evolution, Molecular; D020224:Expressed Sequence Tags; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D018079:Receptors, GABA / Q000235:genetics*
chemical_list: D018079:Receptors, GABA