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低成本基因多态性检测方法及其应用研究

Development and applications of inexpensive genotyping methods

  • 摘要: 单核苷酸多态性(SNP)是基因多态性的主要来源,其数量极其庞大,因此有必要开发一种通量高、速度快、价格低的SNP检测方法。本课题组针对基因多态性测定中的技术瓶颈,提出了一整套解决方案,包括全血直接PCR扩增技术、基于DNA适配器介导的多重等位基因特异性扩增法、单管基因多态性检测法以及微板阵列平行凝胶电泳和微流控芯片检测等方法。在药物基因组学、疾病相关性研究、药材真伪鉴别等方面得到了成功应用,具有高特异性、高灵敏度、操作简便快速、低成本的优点,应用前景广阔。本文对该基因多态性检测平台的研究及其应用作了详细介绍。

     

    Abstract: Single nucleotide polymorphism(SNP) is a major source of genetic differences,and the number of SNP is extremely large.Consequently,a high-throughput,rapid and cost-effective technique is essential for SNP typing.Recently,a set of solutions aimed directly at the bottlenecks in SNP detection were put forward,which including direct PCR from human whole blood,adapter-ligation mediated allele-specific amplification,gene polymorphism detection in one tube,microplate array parallel gel electrophoresis and microchip electrophoresis.These methods have been successfully applied in pharmacogenomics,disease-related research,herbal medicine identification and quality control.The results showed that the advantages of the genotyping platforms are highly specific,sensitive,easy to operate and inexpensive with a good prospect of application.The principles and applications of the genotyping platforms in detail were described in this paper.

     

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