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Inspection method of gene copy number variation

机译:基因拷贝数变异的检验方法

摘要

The present invention genetic testing field , and in particular gene copy number variation method of inspection . In this method , select the array and ersatz in the source of or outside sources of similar sequences of inspection waiting gene , after you design the corresponding primer , was amplify sequences similar array of inspection waiting gene at the same time , the melting curve I analyze . When the copy number variation occurs in the inspection wait gene , analysis of its melting curve is that it can be clearly distinguished from the analysis of the wild -type gene inspection waiting , the purpose can be achieved in the test . The method of the present invention is not only examination of gene copy number variation , is also used for inspection of chromosomal aneuploidy . The method of the present invention the gene copy number variation patients and chromosomal aneuploidy screening patients , in addition to being applied before normal birth testing , also applies to non-invasive prenatal diagnosis . The method of the present invention is fast , accurate , high-sensitivity , high specificity , high throughput , low cost , has advantages such as no pollution . [ Selection Figure Figure 1
机译:本发明是基因检测领域,尤其是基因拷贝数变异的检验方法。用这种方法,在检验等待基因相似序列的来源或外部来源中选择阵列和ersatz,设计相应的引物后,同时扩增检验等待基因相似序列的序列,进行熔解曲线分析。 。当检测等待基因中出现拷贝数变异时,对其熔解曲线的分析是可以与野生型基因检测等待的分析区分开来,可以达到目的。本发明的方法不仅检查基因拷贝数变异,还用于检查染色体非整倍性。本发明的方法的基因拷贝数变异患者和染色体非整倍性筛查患者,除在常规出生检查前应用外,还适用于无创性产前诊断。本发明的方法快速,准确,灵敏度高,特异性强,通量高,成本低,具有无污染等优点。 [选择图图1

著录项

  • 公开/公告号JP2014531208A

    专利类型

  • 公开/公告日2014-11-27

    原文格式PDF

  • 申请/专利权人 郭奇偉;周裕林;

    申请/专利号JP20140531086

  • 发明设计人 郭奇偉;周裕林;

    申请日2012-09-20

  • 分类号C12Q1/68;C12N15/09;G01N33/58;

  • 国家 JP

  • 入库时间 2022-08-21 15:29:38

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