Identification of a naturally occurring Pro385-Ser385 substitution in the GABA(A) receptor α6 subunit gene in alcoholics and healthy volunteers

N. Iwata, M. Virkkunen, D. Goldman

研究成果: Article査読

17 被引用数 (Scopus)

抄録

In the rat, variation in alcohol and benzodiazepine sensitivity has been correlated with an inherited variant of the GABA(A)α6 receptor. Our goal was to identify polymorphisms in the human GABA(A)α6 receptor gene and determine whether a variant of the receptor is associated with alcoholism. The GABA(A)α6 receptor gene coding region was screened in 80 unrelated patients with alcoholism using single strand conformational polymorphism analysis. For rapid genotyping, a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay was developed. A relatively abundant amino acid substitution and three synonymous DNA substitutions were detected. The synonymous variants, 35A > G, 665A > G, and 1031G > C had rare-allele frequencies of 0.25, 0.02, and 0.47, respectively. The Pro385Ser substitution is located in the second intracellular domain of the receptor adjacent to a putative phosphorylation site. Pro385Ser has rarer allele frequencies of 3.3% and 4.8% in 196 Finnish alcoholic patients and 189 controls, respectively (P = NS). A naturally occurring non-conservative Pro385Ser was detected in the GABA(A)α6 receptor. The variant is not associated with alcoholism.

本文言語English
ページ(範囲)316-319
ページ数4
ジャーナルMolecular Psychiatry
5
3
DOI
出版ステータスPublished - 2000

All Science Journal Classification (ASJC) codes

  • 分子生物学
  • 精神医学および精神衛生
  • 細胞および分子神経科学

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