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发明公开
CN109777867A 一种重叠延伸PCR结合Sanger测序检测耳聋易感基因突变的方法 有权 转让

一种重叠延伸PCR结合Sanger测序检测耳聋易感基因突变的方法
摘要：
本发明公开了一种重叠延伸PCR结合Sanger测序检测耳聋易感基因突变的方法，本方法基于一个用于扩增GJB2基因、SLC26A4基因、线粒体DNA和GJB3基因耳聋相关突变位点的引物组合，其核苷酸序列如SEQ ID No.1～26所示。通过本发明建立的检测方法，利用重叠延伸PCR结合Sanger测序检测耳聋易感基因，仅需要5个PCR反应和测序反应，大幅度减少PCR反应数和测序反应数，可以检测GJB2基因、SLC26A4基因、线粒体DNA和GJB3基因的主要43个突变位点，并可以发现扩增片度中新的变异位点。所以此检测技术应用于耳聋易感基因突变检测具有重要的临床意义，不仅简化操作步骤，降低检测成本，而且提高检测效率，值得大力推广。
摘要（英）：

The invention discloses a method for detecting mutation of deafness susceptibility genes through combination of overlapping extension PCR and Sanger sequencing. The method is based on a primer combination which is used for amplifying deafness-relevant mutation sites of GJB2 genes, SLC26A4 genes, mitochondrial DNA and GJB3 genes, wherein the nucleotide sequences of the primer combination are shownin SEQ ID No.1-26. By means of the built detection method, the deafness susceptibility genes are detected through the combination of overlapping extension PCR and Sanger sequencing, only 5 PCR reactions and sequencing reactions are needed, the PCR reaction number and sequencing reaction number are greatly reduced, main 43 mutation sites of the GJB2 genes, SLC26A4 genes, mitochondrial DNA and GJB3genes can be detected, and new mutation sites in amplification fragments can be found. The detection technology has important clinical significance when applied to detecting the mutation of the deafness susceptibility genes, the operation step is simplified, the detection cost is reduced, the detection efficiency is improved, and the method is worthy of wide popularization.

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