Abstract:

Gene therapy refers to the use of gene editing technology to “modify” cell genes to achieve the purpose of treatment. The emergence of CRISPR/Cas provides a simple， efficient and multifunctional platform for gene editing. Meanwhile， in order to overcome the adverse effects caused by DNA double?strand breaks， new technologies based on CRISPR/Cas， such as base editors （BE）， Prime Editors （PE） and Cas13 effector， have been developed one after another. At present， CRISPR/Cas and its derivative editing technologies have been widely used in animal cell model construction， drug target screening and gene function research， and also show broad application prospects in the field of gene therapy. Based on this， CRISPR/Cas and its derivative editing technology were briefly introduced， and their application progress in gene therapy of single gene genetic diseases， tumors and other diseases was summarized. And the challenges they faced at present were analyzed， in order to provide relevant theoretical reference for gene editing in the treatment of single?gene genetic diseases， tumors and other diseases.

Key words: CRISPR/Cas, base editors, Prime Editors, Cas13 effector, gene therapy

摘要：

基因治疗是指利用基因编辑技术对细胞基因进行“修饰”而达到治疗的目的。CRISPR/Cas的出现为基因编辑提供了简单、高效和多功能的平台，同时，为克服DNA双链断裂产生的不良影响，基于CRISPR/Cas的新型技术，如碱基编辑器（base editors，BE）、Prime Editors（PE）和Cas13效应器，被相继开发出来。目前，CRISPR/Cas及其衍生编辑技术已被广泛应用于动物细胞模型构建、药物靶点筛查和基因功能研究等领域，在基因治疗领域也展现出广阔的应用前景。基于此，简要介绍了CRISPR/Cas及其衍生编辑技术，综述了其在单基因遗传病、肿瘤和其他疾病的基因治疗中的应用进展，并分析了其当下面临的挑战，以期为基因编辑在单基因遗传病、肿瘤和其他疾病治疗领域提供理论参考。

关键词: CRISPR/Cas, 碱基编辑器, Prime Editors, Cas13效应器, 基因治疗