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CN106834502B 一种基于基因捕获和二代测序技术的脊髓性肌萎缩症相关基因拷贝数检测试剂盒及方法 有权 转让 质押

一种基于基因捕获和二代测序技术的脊髓性肌萎缩症相关基因拷贝数检测试剂盒及方法
Abstract:
本发明公开了一种基于基因捕获和二代测序技术的脊髓性肌萎缩症相关基因拷贝数检测试剂盒和方法。该试剂盒包括捕获探针，捕获探针由4个主要探针和相关对照探针组成。4个主要探针为：捕获SMN2基因外显子7的探针，如SEQ ID NO:1所示；捕获SMN2基因外显子7的探针，如SEQ ID NO:2所示；捕获SMN1基因外显子7的探针，如SEQ ID NO:3所示；捕获SMN1基因外显子7的探针，如SEQ ID NO:4所示；捕获探针对目标区域进行捕获，测序，通过本发明数据分析方法进一步估算SMN1和SMN2基因外显子7的拷贝数。本发明解决了现有方法测序深度不均一、错误率较高、稳定性不好、通量较小等问题。
Abstract(English):

The invention discloses a spinal muscular atrophy related gene copy number detecting kit and method based on a gene trapping and second-generation sequencing technique. The kit comprises capture probes, wherein the capture probes include four main probes and related control probes. The four main probes are the probe for capturing an SMN2 gene exon 7 and shown as SEQ ID NO:1, the probe for capturing an SMN2 gene exon 7 and shown as SEQ ID NO:2 the probe for capturing an SMN1 gene exon 7 and shown as SEQ ID NO:3 and the probe for capturing an SMN1 gene exon 7 and shown as SEQ ID NO:4, the capture probes conduct capture and sequencing on a target area, and the copy number of SMN1 and SMN2 gene exons 7 is further estimated through the data analysis method. The problem that an existing method is not uniform in sequencing depth, higher in error rate, poor in stability, smaller in flux and the like is solved.

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