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The CAP-2 gene and the protein which are revealed with the brain which it is related with bipolar obstacle

机译:与双极障碍有关的与大脑一起揭示的CAP-2基因和蛋白质

摘要

We previously identified 18q21.33-q23 as a candidate region for bipolar (BP) disorder and constructed a yeast artificial chromosome (YAC) contig map. In a next step we isolated and analysed all CAG/CTG repeats from this region and excluded them from involvement in BP disorder. Here, in the process of identifying all CCG/CGG repeats from the region, we found a cluster of 6 genes encoding for serpins. For one of them, CAP2 located at 18q21.3, a mutation analysis was performed. Analysis of the thus identified single nucleotide polymorphisms (six in total) revealed a statistically significant association of SNP c.942GT with BP disorder. It is thus an object of the present invention to provide a method of diagnosing BP or susceptibility to BP in an individual which method comprises determining, in a sample from the individual, the single nucleotide polymorphism in the CAP2 gene of the individual, and determining the status of the individual by reference to polymorphism in the CAP2 gene.
机译:我们先前确定18q21.33-q23为双相(BP)障碍的候选区域,并构建了酵母人工染色体(YAC)重叠群图。在下一步中,我们分离并分析了该区域的所有CAG / CTG重复序列,并将其排除在BP障碍之外。在这里,在从该区域识别所有CCG / CGG重复序列的过程中,我们发现了6个编码丝氨酸蛋白酶抑制剂的基因簇。对于其中之一,CAP2位于18q21.3,进行了突变分析。对如此鉴定的单核苷酸多态性(总共六个)的分析显示,SNP c.942G> T与BP障碍有统计学意义的关联。因此,本发明的目的是提供一种诊断个体中的BP或对BP的易感性的方法,该方法包括在来自个体的样品中确定个体的CAP2基因中的单核苷酸多态性,并确定个体的CAP2基因。参考CAP2基因中的多态性来确定个体的健康状况。

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