P285 SNP analysis of GABRB3 in autistic disorder

Menold Menold, M. P. Bass, C. M. Wolpert, S. L. Donnelly, C. Poole, R. K. Abramson, H. H. Wright, S. A. Raven, G. R. DeLong, M. A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

Abstract

Gamma-aminobutyric Acid (GABA) is the major inhibitory neurotransmitter in the adult brain acting via the GABA-A receptors. GABA-A receptors are comprised of several different homologous subunits forming a group of receptors that are both structurally and functionally diverse. The GABA-A-B3, -a5, and -gammaS subunit genes cluster on chromosome 15q11-q13, in the region where we have shown linkage in families with Autistic Disorder (AD) (Bass 1999). In addition, there have been two AD studies which reported linkage disequilibrium (LD) using markers in GABRB3 (Cook 1998, Martin 1999). Based on these findings, we genotyped three GABRB3 single nucleotide polymorphisms (SNPs) in our data set of 87 multiple incidence AD families. We looked for LD in each SNP separately using the Pedigree Disequilibrium Test (PDT) (Martin(a) in press), as well as combined using Transmit (Clayton 1999). Analysis of the data showed no evidence for LD with these SNPs (GABRB3ex1a-1p=0.37; GABRB3ex1a-2 p=0.59; GABRB 3ex3 p=0.60; combined p=0.67). These data do not necessarily exclude GABA-A subunit genes in the etiology of AD (Martin(b) in press). Additional typing of GABA-A SNPs in 125 single incidence AD families is ongoing.

Original languageEnglish (US)
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number4
StatePublished - Aug 7 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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