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发明授权
CN106011253B 用于检测微量组织中PDGFRA基因突变的引物组合及其应用 有权

用于检测微量组织中PDGFRA基因突变的引物组合及其应用
摘要：
本发明公开了一种用于检测微量组织中PDGFRA基因突变的引物组合，其包括预扩增引物组、用于检测12号外显子突变的引物组、用于检测14号外显子突变的引物组、用于检测18号外显子突变的引物组；该方法旨在将微量的DNA通过预扩增得到较高浓度的DNA模板，结合直接测序法检测样本中PDGFRA基因的突变情况；将该引物组合应用于制备检测PDGFRA基因突变的检测试剂中，可检测样本的DNA浓度低至100pg，且可以同时检测PDGFRA基因第12、14和18号外显子的所有突变，本发明提供的检测方法灵敏度高，特异性强，成本低，适用于临床肿瘤患者PDGFRA基因突变的检测，具有很好的临床应用价值。
摘要（英）：

The invention discloses a primer combination for detecting gene PDGFRA mutation in microtissue. The primer combination comprises a pre-amplification primer group, a primer group for detecting mutation of a twelfth exon, a primer group for detecting mutation of a fourteenth exon and a primer group for detecting mutation of an eighteenth exon. According to the method, it aims at obtaining a high-concentration DNA template through a trace of DNA by means of pre-amplification, and the mutation situation of a gene PDGFRA in a sample is detected through a direct sequencing method. The primer combination is applied to detection reagents for detecting mutation of the gene PDGFRA, can detect samples with the DNA concentration lower to 100 pg and can simultaneously detect all mutation of the twelfth exon, the fourteenth exon and the eighteenth exon of the gene PDGFRA. The detection method is high in sensitivity and specificity, low in cost and suitable for detection of mutation of the gene PDGFRA of a clinical cancer patient and has very high clinical application value.

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