作者
DQ Ma, PL Whitehead, MM Menold, ER Martin, AE Ashley-Koch, H Mei, MD Ritchie, GR Delong, RK Abramson, HH Wright, ML Cuccaro, JP Hussman, JR Gilbert, Margaret A Pericak-Vance
发表日期
2005/9/1
期刊
The American Journal of Human Genetics
卷号
77
期号
3
页码范围
377-388
出版商
Elsevier
简介
Autism is a common neurodevelopmental disorder with a significant genetic component. Existing research suggests that multiple genes contribute to autism and that epigenetic effects or gene-gene interactions are likely contributors to autism risk. However, these effects have not yet been identified. Gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter in the adult brain, has been implicated in autism etiology. Fourteen known autosomal GABA receptor subunit genes were studied to look for the genes associated with autism and their possible interactions. Single-nucleotide polymorphisms (SNPs) were screened in the following genes: GABRG1, GABRA2,GABRA4, and GABRB1 on chromosome 4p12; GABRB2, GABRA6, GABRA1, GABRG2, and GABRP on 5q34-q35.1; GABRR1 and GABRR2 on 6q15; and GABRA5, GABRB3, and GABRG3 on 15q12. Intronic and/or silent mutation SNPs within …
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