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Human GABA B receptor 1 gene: Eight novel sequence variants
Author(s) -
Hisama Fuki M.,
Gruen Jeffrey R.,
Choi Jenny,
Huseinovic Masha,
Grigorenko Elena L.,
Pauls David,
Mattson Richard H.,
Gelernter Joel,
Wood Frank B.,
Goei Vita L.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.34
Subject(s) - biology , genetics , missense mutation , gene , gabab receptor , intron , population , mutation , gabaa receptor , receptor , demography , sociology
GABA (γ‐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. Hum Mutat 17:349‐350, 2001. © 2001 Wiley‐Liss, Inc.