Human GABAB receptor 1 gene: Eight novel sequence variants

✍ Scribed by Fuki M. Hisama; Jeffrey R. Gruen; Jenny Choi; Masha Huseinovic; Elena L. Grigorenko; David Pauls; Richard H. Mattson; Joel Gelernter; Frank B. Wood; Vita L. Goei

• Book ID: 102262153
• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 29 KB
• Volume: 17
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.34

✦ Synopsis

Paalman

GABA (ϒ ϒ-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.