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发明授权
CN107653247B 126位点发生突变的RanBP9突变基因及其应用 失效 - 权利终止

126位点发生突变的RanBP9突变基因及其应用
摘要：
本发明提供了一种发生了c.126C>T突变的RanBP9突变基因，其核苷酸序列如SEQ ID NO:1所示，它是人类男性生精障碍的致病基因。本发明还提供了基于多重PCR捕获联合二代DNA测序的RanBP9致病基因外显子突变筛选方法，最后利用Sanger测序对突变进行验证；其中PCR捕获引物组包含扩增引物序列SEQ ID NO:7‑12，用于Sanger测序的RanBP9基因c.126C>T突变片段的扩增引物序列如SEQ ID NO:7‑8所示。本发明提供的RanBP9致病基因形式尚未被报道，可以为该病致病机理的解析和检测方法的构建等提供依据和奠定基础。
摘要（英）：

The invention provides a RanBP9 mutant gene suffering from c.126C>T mutation. The nucleotide sequence of the RanBP9 mutant gene is shown in a SEQ ID NO:1, and the RanBP9 mutant gene is a virulence gene of human male dyszoospermia. The invention further provides a RanBP9 virulence gene exon mutant screening method based on combination of multi-PCR capture and next-generation DNA sequencing. According to the RanBP9 virulence gene exon mutant screening method, finally, Sanger sequencing is adopted to verify mutation. PCR capture primer groups include amplified primers of which the sequences are shown in SEQ ID NO:7-12, and the sequences of amplified primers, used for Sanger sequencing, of a RanBP9 gene c.126C>T mutant fragment are shown in SEQ ID NO:7-8. Forms of the RanBP9 virulence gene arereported for the first time, and bases can be provided for parsing the pathogenesis of the human male dyszoospermia, establishing a detection method of the human male dyszoospermia and the like.

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