Human GABA(B) receptor 1 gene: Eight novel sequence variants

Fuki M. Hisama, Jeffrey R. Gruen, Jenny Choi, Masha Huseinovic, Elena L. Grigorenko, David Pauls, Richard H. Mattson, Joel Gelernter, Frank B. Wood, Vita Lan-Ing Goei

Research output: Contribution to journalArticle

10 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)349-350
Number of pages2
JournalHuman Mutation
Volume17
Issue number4
DOIs
StatePublished - Jan 1 2001

Fingerprint

GABA Receptors
Mutation
Dyslexia
Chromosomes, Human, Pair 6
Missense Mutation
Drug Delivery Systems
HLA Antigens
Introns
gamma-Aminobutyric Acid
Genes
Neurotransmitter Agents
Epilepsy
Schizophrenia
Chromosomes
DNA
Brain
Population
Pharmacogenomic Testing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Hisama, F. M., Gruen, J. R., Choi, J., Huseinovic, M., Grigorenko, E. L., Pauls, D., ... Goei, V. L-I. (2001). Human GABA(B) receptor 1 gene: Eight novel sequence variants. Human Mutation, 17(4), 349-350. https://doi.org/10.1002/humu.34

Human GABA(B) receptor 1 gene : Eight novel sequence variants. / 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 Lan-Ing.

In: Human Mutation, Vol. 17, No. 4, 01.01.2001, p. 349-350.

Research output: Contribution to journalArticle

Hisama, FM, Gruen, JR, Choi, J, Huseinovic, M, Grigorenko, EL, Pauls, D, Mattson, RH, Gelernter, J, Wood, FB & Goei, VL-I 2001, 'Human GABA(B) receptor 1 gene: Eight novel sequence variants', Human Mutation, vol. 17, no. 4, pp. 349-350. https://doi.org/10.1002/humu.34
Hisama FM, Gruen JR, Choi J, Huseinovic M, Grigorenko EL, Pauls D et al. Human GABA(B) receptor 1 gene: Eight novel sequence variants. Human Mutation. 2001 Jan 1;17(4):349-350. https://doi.org/10.1002/humu.34
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 Lan-Ing. / Human GABA(B) receptor 1 gene : Eight novel sequence variants. In: Human Mutation. 2001 ; Vol. 17, No. 4. pp. 349-350.
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