CRIPSR-Cas9 基因编辑技术在遗传性视网膜病变治疗中的安全效应评估

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已出版: 2026-06-30
##doi.readerDisplayName##: https://doi.org/10.70088/tgvkpp48
关键词:
基因编辑, 视网膜病变, 安全性评估, 脱靶效应

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晨 林
赣南医科大学第一附属医院眼科，赣州 341000
亚萍 赵
赣南医科大学第一附属医院眼科，赣州 341000

摘要

本研究系统评估CRISPR-Cas9基因编辑技术在遗传性视网膜病变治疗中的安全效应。通过构建携带RHO基因c.128G>A致病突变的类视网膜感光细胞模型，采用高保真Cas9变体与化学修饰sgRNA进行靶向矫正，结合全基因组脱靶扫描、线粒体DNA拷贝数动态监测、单细胞转录组稳定性分析及长期功能表型追踪，量化评估编辑特异性、细胞器稳态维持能力、转录噪声水平及光感受器结构完整性。结果显示：脱靶切割事件发生率低于0.003%，线粒体DNA拷贝数波动幅度控制在±8.2%以内，单细胞基因表达离散度（CV值）较未编辑对照组仅升高1.7个百分点，且经6个月体外培养后外节盘膜结构保持率达94.3%。数据表明该优化编辑策略在维持基因组与细胞器双重稳定性方面具备临床转化潜力。

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期次

卷 3 期 2 (2026)

栏目

Articles

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CRIPSR-Cas9 基因编辑技术在遗传性视网膜病变治疗中的安全效应评估. (2026). 前沿医学研究, 3(2), 27-34. https://doi.org/10.70088/tgvkpp48

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