诱导多能干细胞联合CRISPR/Cas9在遗传病中的研究进展和应用  

Research Progress and Application of iPSC Combined with CRISPR/Cas9 in Genetic Disease

作　　者：田芯瑗 张钏[1] 孙小红[3] 惠玲 TIAN Xinyuan;ZHANG Chuan;SUN Xiaohong;HUI Ling(Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Medical Genetics Center,Maternity and Childcare Hospital of Gansu,Lanzhou 730050,China;School of Public Health,Gansu University of Chinese Medicine,Lanzhou 730000,China;Maternity and Childcare Hospital of Lanzhou,Lanzhou 730000,China)

机构地区：[1]甘肃省妇幼保健院医学遗传中心,甘肃省出生缺陷与罕见病临床研究中心,兰州730050 [2]甘肃中医药大学公共卫生学院,兰州730000 [3]兰州市妇幼保健院,兰州730000

出　　处：《中国细胞生物学学报》2023年第8期1208-1217,共10页Chinese Journal of Cell Biology

基　　金：甘肃省科技厅创新基地及人才计划(批准号:21JR7RA680);兰州市科技计划(批准号:2021-1-182、2022-5-81);兰州市人才创新创业项目(批准号:2018-RC-42)资助的课题。

摘　　要：规律成簇的间隔短回文重复序列/相关蛋白核酸酶(regular clustering of short palindrome repeats/Cas9,CRISPR/Cas9)技术联合应用诱导多能干细胞(induced pluripotent stem cell,iPSC)可以在体外建立各种遗传病模型,研究疾病发生的分子机制或进行高通量药物筛选,还可以纠正致病突变,为细胞和基因替代疗法、个性化再生医学和活体生物医学的发展奠定研究基础,但二者结合应用仍存在很多问题尚待解决。该文主要对近年iPSC和CRISPR/Cas9技术的发展以及二者结合在人类遗传病建模、细胞和基因替代治疗以及生物传感器应用中的最新进展进行综述,并探讨面临的技术挑战和解决方法。The CRISPR/Cas9(regular clustering of short palindrome repeats/Cas9)technology combined with iPSC(induced pluripotent stem cell)can establish various genetic disease models to study the molecular mechanism of disease occurrence or perform high-throughput drug screening.It can also correct disease-causing mutations,laying a research foundation for the development of cell and gene therapy,personalized regenerative medicine and living biomedicine.However,there are still many problems to be solved in the combination of the two.In this paper,the latest progress of iPSC and CRISPR/Cas9 technology are summarized,as well as the combination of the two in human genetic disease modeling,cell and gene replacement therapy,and the applications of biosensor.At the same time,the great challenges and solutions are also discussed.

关 键 词：IPSC CRISPR/Cas9 遗传病 疾病建模 基因治疗 

分 类 号：R596[医药卫生—内科学]