title: Human GABA(B) receptor 1 gene: eight novel sequence variants.
abstract: GABA (gamma-aminobutyric acid) is the principal inhibitory neurotransmitter in the brain. The human GABA(B) receptor (GABBR1) maps to the human leukocyte antigen (HLA) region of chromosome 6. Its function and location in a susceptibility region for schizophrenia, epilepsy, and dyslexia make GABBR1 a candidate gene for neurobehavioral disorders. We report the characterization of GABBR1 gene mutations in 100 chromosomes from a mixed American population. Eleven distinct mutations were found, including two previously reported missense mutations (A20V and G489S) and a previously reported silent 1977 T>C transition. Here, we report four novel silent substitutions (39C>T, 1473T>C, 1476T>C, 1545T>C) and four novel intron variants. These DNA variants may be useful in association and linkage studies of neurobehavioral disorders, and in pharmacogenetic studies of drugs targeting GABBR1.
authors: Department of Neurology, Yale University School of Medicine, New Haven, Connecticut 06520-8018, USA. fuki.hisama@yale.edu
authors: F M
authors: FM
authors: Hisama
authors: J R
authors: JR
authors: Gruen
authors: J
authors: J
authors: Choi
authors: M
authors: M
authors: Huseinovic
authors: E L
authors: EL
authors: Grigorenko
authors: D
authors: D
authors: Pauls
authors: R H
authors: RH
authors: Mattson
authors: J
authors: J
authors: Gelernter
authors: F B
authors: FB
authors: Wood
authors: V L
authors: VL
authors: Goei
mesh_terms: D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D001523:Mental Disorders / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D018080:Receptors, GABA-B / Q000235:genetics* / Q000378:metabolism; D014481:United States
chemical_list: D017931:DNA Primers; D018080:Receptors, GABA-B