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失调结合蛋白基因的非翻译区单倍型:精神分裂症分析

Untranslated region haplotype in dysbindin gene: analysis in schizophrenia.

作者信息

De Luca V, Voineskos D, Shinkai T, Wong G, Kennedy J L

机构信息

Department of Psychiatry, Neurogenetics Section, Clarke Site, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ont, Canada.

出版信息

J Neural Transm (Vienna). 2005 Sep;112(9):1263-7. doi: 10.1007/s00702-005-0338-9.

DOI:10.1007/s00702-005-0338-9
PMID:16133786
Abstract

Genome-scans performed in schizophrenia families have provided evidence for region 6p24-21 where variability may confer susceptibility to schizophrenia. Recent studies have implicated that gene DTNBP1 (dysbindin) in this region is strongly associated with schizophrenia. In a family based association study we investigated three markers located in the untranslated region of the DTNBP1 gene: rs909706, rs1047631 and rs742106. The sample size of our study is 117 families. No biased transmission towards the disorder was detected by haplotype analysis using TRANSMIT.

摘要

在精神分裂症家族中进行的全基因组扫描为6p24 - 21区域提供了证据,该区域的变异性可能使人易患精神分裂症。最近的研究表明,该区域的DTNBP1(dysbindin)基因与精神分裂症密切相关。在一项基于家族的关联研究中,我们调查了位于DTNBP1基因非翻译区的三个标记:rs909706、rs1047631和rs742106。我们的研究样本量为117个家族。使用TRANSMIT进行单倍型分析未检测到向该疾病的偏向性传递。

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DTNBP1 (Dystrobrevin binding protein 1) and schizophrenia: association evidence in the 3' end of the gene.

本文引用的文献

1
Human dysbindin (DTNBP1) gene expression in normal brain and in schizophrenic prefrontal cortex and midbrain.人类失调结合蛋白(DTNBP1)基因在正常大脑以及精神分裂症患者前额叶皮质和中脑中的表达。
Arch Gen Psychiatry. 2004 Jun;61(6):544-55. doi: 10.1001/archpsyc.61.6.544.
2
Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria.来自保加利亚的488个亲子三联体中,肌萎缩蛋白结合蛋白1基因(DTNBP1)与精神分裂症之间存在关联的有力证据。
Biol Psychiatry. 2004 May 15;55(10):971-5. doi: 10.1016/j.biopsych.2004.01.025.
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Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1).
DTNBP1(肌营养不良蛋白结合蛋白1)与精神分裂症:该基因3'端的关联证据
Hum Hered. 2007;64(2):97-106. doi: 10.1159/000101961. Epub 2007 May 2.
在两个独立样本中鉴定出肌萎缩蛋白结合蛋白基因(DTNBP1)的一种新型精神分裂症风险单倍型。
Arch Gen Psychiatry. 2004 Apr;61(4):336-44. doi: 10.1001/archpsyc.61.4.336.
4
The family based association test method: strategies for studying general genotype--phenotype associations.基于家系的关联检验方法:研究一般基因型与表型关联的策略
Eur J Hum Genet. 2001 Apr;9(4):301-6. doi: 10.1038/sj.ejhg.5200625.
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Searching for schizophrenia genes.寻找精神分裂症基因。
Trends Mol Med. 2001 Apr;7(4):169-74. doi: 10.1016/s1471-4914(01)01950-5.
6
Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness.复杂的启动子和编码区β2 - 肾上腺素能受体单倍型改变受体表达并预测体内反应性。
Proc Natl Acad Sci U S A. 2000 Sep 12;97(19):10483-8. doi: 10.1073/pnas.97.19.10483.
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A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies.一种从血液中制备用于限制性片段长度多态性(RFLP)研究的高分子量(HMW)DNA的快速非酶法。
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