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发明公开
CN106929592A X‑性连锁鱼鳞病相关STS基因拷贝数变异检测试剂盒 无效 - 撤回

X‑性连锁鱼鳞病相关STS基因拷贝数变异检测试剂盒
摘要：
本发明公开了一种X‑性连锁鱼鳞病相关STS基因拷贝数变异检测试剂盒，包括10×PCR缓冲液，4×GC Solution，PCR引物混合液，TaqDNA聚合酶，探针引物混合液，DNA稀释液，10×Taq连接缓冲液，Taq连接酶，EDTA，dNTP，MgCl2，ddH2O。本发明主要用于检测STS基因缺失或重复突变而导致X‑性连锁鱼鳞病，以获取STS基因各目标位点的正确拷贝数。本发明的探针短，可直接合成，无需克隆制备，整个实验过程仅需一步连接反应，一步PCR循环和一步毛细管电泳，耗时不到24个小时；基于高特异性的连接原理，检测区域连接产物采用通用引物扩增，扩增效率基本一致，且检测稳定性高。
摘要（英）：

The invention discloses an X-sex-linkage ichthyosis related STS gene copy number mutation detection kit. The kit comprises a 10*PCR buffer solution, a 4*GC Solution, PCR primer mixed liquid, TaqDNA polymerase, probe primer mixed liquid, DNA diluent, a 10*Taq connection buffer solution, Taq ligase, EDTA, dNTP, MgCl2 and ddH2O. The kit is mainly used for detecting X-sex-linkage ichthyosis caused by STS gene deletion or repeated mutation to obtain the correct copy number of all target loci of an STS gene. A probe is short and can be directly synthesized without cloning preparation, the whole experimental process only needs a one-step connection reaction, one-step PCR circulation and one-step capillary electrophoresis, and consumed time is shorter than 24 hours. Based on the high-specificity connection principle, universal primer amplification is adopted for a detection region connection product, the amplification efficiency is basically consistent, and the detection stability is high.

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