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精神分裂症与多巴胺-β-羟化酶基因:一项连锁与关联研究的结果

Schizophrenia and the dopamine-beta-hydroxylase gene: results of a linkage and association study.

作者信息

Meszaros K, Lenzinger E, Füreder T, Hornik K, Willinger U, Stompe T, Heiden A M, Resinger E, Fathi N, Gerhard E, Fuchs K, Miller-Reiter E, Pfersmann V, Sieghart W, Aschauer H N, Kasper S

机构信息

Department of General Psychiatry, University Hospital for Psychiatry, Vienna, Austria.

出版信息

Psychiatr Genet. 1996 Spring;6(1):17-22. doi: 10.1097/00041444-199621000-00004.

Abstract

Alterations in dopamine neurotransmission and disturbed norepinephrine activity have been implicated in the pathogenesis of schizophrenia. We considered the dopamine-beta-hydroxylase (DBH) gene located on the long arm of chromosome 9 (9q34.3) as a candidate gene for schizophrenia. DBH catalyzes the synthesis of norepinephrine from dopamine in noradrenergic neurons. In addition to DBH we used in the linkage study DNA markers ABL (centromeric) and D9S114 (telomeric). The aim of this study was to test linkage and association between PCR-based genotyped markers and schizophrenia. A simulation was done to investigate the power of our sample. In 34 Austrian families we could not detect linkage between schizophrenia and schizophrenia spectrum disorders and the three genetic markers. We could not find any significant deviation in allelic or genotypic distribution from expectations. Based on our results we conclude that the DBH gene seems to have no strong contribution in the etiology of schizophrenia.

摘要

多巴胺神经传递的改变和去甲肾上腺素活性紊乱与精神分裂症的发病机制有关。我们将位于9号染色体长臂(9q34.3)上的多巴胺-β-羟化酶(DBH)基因视为精神分裂症的候选基因。DBH催化去甲肾上腺素能神经元中多巴胺合成去甲肾上腺素。除了DBH,我们在连锁研究中还使用了DNA标记ABL(着丝粒)和D9S114(端粒)。本研究的目的是检测基于PCR的基因分型标记与精神分裂症之间的连锁和关联。进行了一项模拟以研究我们样本的效能。在34个奥地利家庭中,我们未检测到精神分裂症及精神分裂症谱系障碍与这三个遗传标记之间的连锁。我们未发现等位基因或基因型分布与预期有任何显著偏差。基于我们的结果,我们得出结论,DBH基因似乎在精神分裂症的病因学中没有重要作用。

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