PMID- 11295833
OWN - NLM
STAT- MEDLINE
DCOM- 20010816
LR  - 20081121
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 17
IP  - 4
DP  - 2001 Apr
TI  - Human GABA(B) receptor 1 gene: eight novel sequence variants.
PG  - 349-50
AB  - 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.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Hisama, F M
AU  - Hisama FM
AD  - Department of Neurology, Yale University School of Medicine, New Haven, 
      Connecticut 06520-8018, USA. fuki.hisama@yale.edu
FAU - Gruen, J R
AU  - Gruen JR
FAU - Choi, J
AU  - Choi J
FAU - Huseinovic, M
AU  - Huseinovic M
FAU - Grigorenko, E L
AU  - Grigorenko EL
FAU - Pauls, D
AU  - Pauls D
FAU - Mattson, R H
AU  - Mattson RH
FAU - Gelernter, J
AU  - Gelernter J
FAU - Wood, F B
AU  - Wood FB
FAU - Goei, V L
AU  - Goei VL
LA  - eng
GR  - K11 DK02294/DK/NIDDK NIH HHS/United States
GR  - K11AG00671/AG/NIA NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - 0 (Receptors, GABA-B)
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 6/genetics
MH  - DNA Mutational Analysis
MH  - DNA Primers
MH  - Exons/genetics
MH  - Gene Frequency/genetics
MH  - Genetic Predisposition to Disease/genetics
MH  - Genetic Variation/genetics
MH  - Humans
MH  - Introns/genetics
MH  - Mental Disorders/genetics
MH  - Mutation/*genetics
MH  - Mutation, Missense/genetics
MH  - Polymorphism, Genetic/*genetics
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single-Stranded Conformational
MH  - Receptors, GABA-B/*genetics/metabolism
MH  - United States
EDAT- 2001/04/11 10:00
MHDA- 2001/08/17 10:01
CRDT- 2001/04/11 10:00
PHST- 2001/04/11 10:00 [pubmed]
PHST- 2001/08/17 10:01 [medline]
PHST- 2001/04/11 10:00 [entrez]
AID - 10.1002/humu.33 [pii]
AID - 10.1002/humu.34 [doi]
PST - ppublish
SO  - Hum Mutat. 2001 Apr;17(4):349-50. doi: 10.1002/humu.34.