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Demographic changes and marker properties affect detection of human population differentiation.人口结构变化和标记属性会影响对人类群体分化的检测。
BMC Genet. 2007 May 11;8:21. doi: 10.1186/1471-2156-8-21.
2
Linkage disequilibrium, haplotype and association studies of a chromosome 4 GABA receptor gene cluster: candidate gene variants for addictions.4号染色体GABA受体基因簇的连锁不平衡、单倍型及关联研究：成瘾的候选基因变异体
Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):854-60. doi: 10.1002/ajmg.b.30349.
3
Dimensional anxiety mediates linkage of GABRA2 haplotypes with alcoholism.维度焦虑介导了GABRA2单倍型与酒精中毒的关联。
Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):599-607. doi: 10.1002/ajmg.b.30336.
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Investigation of altering single-nucleotide polymorphism density on the power to detect trait loci and frequency of false positive in nonparametric linkage analyses of qualitative traits.研究改变单核苷酸多态性密度对非参数连锁分析中定性性状的特征位点检测能力和假阳性频率的影响。
BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S20. doi: 10.1186/1471-2156-6-S1-S20.
5
Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis.通过亚型特异性分析证实GABRA2基因与酒精依赖的关联。
Psychiatr Genet. 2006 Feb;16(1):9-17. doi: 10.1097/01.ypg.0000185027.89816.d9.
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Efficiency and power in genetic association studies.基因关联研究中的效率与效能
Nat Genet. 2005 Nov;37(11):1217-23. doi: 10.1038/ng1669. Epub 2005 Oct 23.
7
Haplotype diversity in 11 candidate genes across four populations.四个群体中11个候选基因的单倍型多样性。
Genetics. 2005 Sep;171(1):259-67. doi: 10.1534/genetics.105.043075. Epub 2005 Jun 18.
8
Alternative splicing and promoter use in the human GABRA2 gene.
Brain Res Mol Brain Res. 2005 Jun 13;137(1-2):174-83. doi: 10.1016/j.molbrainres.2005.03.001. Epub 2005 Apr 8.
9
Association between alcoholism and gamma-amino butyric acid alpha2 receptor subtype in a Russian population.俄罗斯人群中酒精中毒与γ-氨基丁酸α2受体亚型之间的关联。
Alcohol Clin Exp Res. 2005 Apr;29(4):493-8. doi: 10.1097/01.alc.0000158938.97464.90.
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PowerMarker: an integrated analysis environment for genetic marker analysis.PowerMarker：用于遗传标记分析的集成分析环境。
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人类4号染色体上GABA簇基因座处GABRA2和GABRG1基因的群体间连锁不平衡模式。

Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4.

作者信息

Ittiwut Chupong, Listman Jennifer, Mutirangura Apiwat, Malison Robert, Covault Jonathan, Kranzler Henry R, Sughondhabirom Atapol, Thavichachart Nuntika, Gelernter Joel

机构信息

Department of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA.

出版信息

Genomics. 2008 Jan;91(1):61-9. doi: 10.1016/j.ygeno.2007.08.007. Epub 2007 Nov 5.

DOI:10.1016/j.ygeno.2007.08.007
PMID:17976953
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2709929/
Abstract

GABRA2 and GABRG1, which encode the alpha-2 and gamma-1 subunits, respectively, of the GABA(A) receptor, are located in a cluster on chromosome 4p. The GABRA2 locus has been found to be associated with alcohol dependence in several studies, but no functional variant that can account for this association has been identified. To understand the reported associations, we sought to understand the linkage disequilibrium (LD) patterns and haplotype structures of these genes. With close intergenic distance, approximately 90 kb, it was anticipated that some markers might show intergenic LD. Variation in 13-SNP haplotype block structure was observed in five different populations: European American, African American, Chinese (Han and Thai), Thai, and Hmong. In the Hmong, a 280-kb region of considerably higher LD spans the intergenic region, whereas in other populations, there were two or more LD blocks that cross this region. These findings may aid in understanding the genetic association of this locus with alcohol dependence in several populations.

摘要

GABRA2和GABRG1分别编码GABA(A)受体的α-2和γ-1亚基，它们位于4号染色体短臂上的一个基因簇中。在多项研究中发现GABRA2基因座与酒精依赖有关，但尚未鉴定出能够解释这种关联的功能性变异。为了理解所报道的关联，我们试图了解这些基因的连锁不平衡（LD）模式和单倍型结构。由于基因间距离很近，约90 kb，预计一些标记可能会显示基因间LD。在五个不同人群中观察到13个单核苷酸多态性（SNP）单倍型块结构的变异：欧裔美国人、非裔美国人、中国人（汉族和泰国人）、泰国人和苗族。在苗族中，一个LD明显更高的280 kb区域跨越基因间区域，而在其他人群中，有两个或更多的LD块穿过该区域。这些发现可能有助于理解该基因座在多个人群中与酒精依赖的遗传关联。