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发明公开
CN106282369A 一种用于检测先天性白内障相关基因的探针组及试剂盒 无效 - 驳回

一种用于检测先天性白内障相关基因的探针组及试剂盒
摘要：
本发明公开了一种用于检测先天性白内障相关基因的探针组及试剂盒。本发明的探针组包括分别针对225个先天性白内障发病相关基因的外显子非重复区域的多个探针序列，本发明还提供包含该探针组的用于区域捕获及二代测序的试剂盒。本发明的探针组及试剂盒可一次性对先天性白内障已发现的225个相关基因进行全面检测，提高了分子诊断的覆盖率及效率，特异性好，灵敏度高，对先天性白内障产前筛查、早期诊断、精准防治具有重要意义。
摘要（英）：

The invention discloses a probe set and a kit used for detecting the related genes of a congenital cataract. The probe set comprises a plurality of probe sequences which respectively aim at the exon non-repeated areas of 225 related genes of the congenital cataract. The invention also provides the kit which contains the probe set and is used for regional capture and next generation sequencing. According to the probe set and the kit, the found 225 related genes of the congenital cataract can be comprehensively detected in one time, the coverage rate and the efficiency of molecular diagnosis can be improved, specificity is good, and sensitivity is high, and the probe set and the kit have an important meaning for the prenatal screening, the early diagnosis and the accurate prevention and control of the congenital cataract.

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