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发明公开
CN110484612A 一种甲基丙二酸血症基因热点突变位点检测试剂盒 无效 - 驳回

一种甲基丙二酸血症基因热点突变位点检测试剂盒
摘要：
本发明公开了一种甲基丙二酸血症基因热点突变位点检测试剂盒，是一种基于MassARRAY质谱平台的甲基丙二酸血症热点突变位点检测试剂盒。该试剂盒主要成分为PCR扩增引物SEQ ID NO:1～SEQ ID NO:92和质谱延伸引物SEQ ID NO:93～SEQ ID NO:138。本发明的试剂盒能够同时准确检测出甲基丙二酸血症3个相关基因MMACHC、MUT、MMAA的46个突变位点，具有高效、高通量、低成本、自动化的优点。
摘要（英）：

The invention discloses a methylmalonic acidemiagene hot mutation site detection kit. The methylmalonic acidemiagene hot mutation site detection kit is based on a MassARRAYmass spectrum platform. Themain components of the methylmalonic acidemiagene hot mutation site detection kit are PCR amplification primers SEZ ID NO: 1 to SEZ ID NO: 92 and mass spectrum extension primers SEZ ID NO: 93 to SEZ ID NO: 138. According to the methylmalonic acidemiagene hot mutation site detection kit, 46 mutation sites of three related genes of the methylmalonic acidemia of MMAHC, MUT, and MMA can be accuratelydetected at the same time, and the methylmalonic acidemiagene hot mutation site detection kithas the advantages of being efficient, high in throughput, low in cost, and automatic.

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