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发明授权
CN107805638B 702位点发生突变的RanBP9突变基因及其应用 失效 - 权利终止

702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.702T>G突变的RanBP9突变基因，其核苷酸序列如SEQ ID NO:3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.702T>G突变片段的扩增引物序列如SEQ ID NO:9‑10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 c.702>T-mutated RanBP9 mutant gene. The nucleotide sequence of the mutant gene is as shown in SEQ ID NO: 3, and the gene is a disease-causing gene of dyszoospermia of human male. The invention further provides an RanBP9 disease-causing gene exon mutation screening method based on multi-PCR (polymerase chain reaction) capturing and second-generation DNA sequencing, and finally mutation is verified by using Sanger sequencing, wherein a PCR capturing primer group comprises amplification primer sequences SEQ ID NO: 7 to 12; the amplification primer sequences of a c.702>T-mutated fragment of the RanBP9 gene for Sanger sequencing are as shown in SEQ ID NO: 9 to 10. The RanBP9 disease-causing gene provided by the invention is not reported, and can provide a basis and laya foundation for construction and the like of analysis and detection methods for pathogenesis of diseases.

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