《生命科学》 2018, 30(9): 926-931

人类胚胎单碱基编辑治疗遗传疾病的研究

孙宏伟1，梁普平1，黄军就1，2，3*

(1 中山大学生命科学学院，基因功能与调控教育部重点实验室，广州 510275；2 中山大学生命科学学院和广州医科大学第三附属医院，广东省生殖医学重点实验室，广州 510275；3 中山大学眼科中心，眼科国家重点实验室，广州 510060)

摘　要：摘　要：基因编辑技术是当今生物学研究领域最为重要的颠覆性技术之一，以CRISPR/Cas9 系统为核心的基因编辑工具被广泛应用于包括人类体细胞、生殖细胞编辑相关的医学研究领域。虽然CRISPR/Cas9 系统可以高效编辑靶基因，但其精准编辑能力依赖于效率极低的同源重组方式，这极大限制了其定点编辑的能力与应用范围，所以寻找一种能高效引入点突变的新型基因编辑工具具有重大的应用价值。以CRISPR/Cas9 系统为基础的单碱基编辑系统可以在基因组靶位点实现精准、高效的C/G 和T/A 碱基间的转换，其编辑能力已经在动植物、人体细胞以及人类胚胎中得到证实。利用单碱基编辑技术，有望对人类超过70% 的相关遗传性致病位点进行修复。现就人类胚胎单碱基编辑治疗遗传疾病的最新研究进展进行综述和展望。

Research on genetic diseases treatment with base editing system in human embryos

SUN Hong-Wei1， LIANG Pu-Ping1， HUANG Jun-Jiu1，2，3*

(1 MOE Key Laboratory of Gene Function and Regulation， School of Life Sciences， Sun Yat-sen University， Guangzhou 510275， China; 2 Guangdong Key Laboratory of Reproductive Medicine， the Third Affiliated Hospital of Guangzhou
    Medical University & School of Life Sciences， Sun Yat-sen University， Guangzhou 510275， China; 3 State Key Laboratory of Ophthalmology， Zhongshan Ophthalmic Center， Sun Yat-sen University， Guangzhou 510060， China)

Abstract: Abstract: Gene editing technique is one of the breakthrough technologies in biological research today. The gene editing tools based on the CRISPR/Cas9 system are widely used in the medical research involving the editing of human somatic cells and germ cells. Although CRISPR/Cas9 system can target the gene efficiently， its ability to precisely editing the target site depends on the low-efficiency homologous directed repair (HDR) manner， which limits its application. It will be valuable to develop a novel gene editing technique which could efficiently introduce the point mutation. The base editing technique based on the CRISPR/Cas9 system enables precise and efficient conversion between C/G and T/A bases at the genomic target sites， and the editing capabilities have been widely confirmed in animals， plants， human cells and human embryos. It’s expected more than 70% of related genetic pathogenic sites in human could be corrected using the base editing system. This review focused on the latest research and outlook about the base editing technique in correcting the genetic diseases in human embryos.