Therapeutic genome editing of an aberrant splice site inβ-thalassemia by CRISPR/Cas9 with multiple sgRNAs  

作　　者：Fei Yang Shuqian Xu Chao Huang Zhiqiang Shao Yuefen Hu Yang Yang Yongrong Lai Qing Ke Dan Liang Yuxuan Wu 

机构地区：[1]Shanghai Key Laboratory of Regulatory Biology,Institute of Biomedical Sciences and School of Life Sciences,East China Normal University,Shanghai 200241,China [2]Department of Obstetrics and Gynecology,The First Affiliated Hospital of Anhui Medical University,Hefei,Anhui 230022,China [3]NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract(Anhui Medical University),Hefei,Anhui 230032,China [4]Department of Hematology,Qilu Hospital,Cheeloo College of Medicine,Shandong University,Jinan,Shandong 250012,China [5]BRLMedicine Inc.,Shanghai 201108,China [6]Department of Hematology,The First Affiliated Hospital of Guangxi Medical University,Nanning,Guangxi 530000,China [7]Department of Neurology,The First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou,Zhejiang 310003,China

出　　处：《Genes & Diseases》2024年第1期15-18,共4页基因与疾病（英文）

基　　金：supported by the National Key R&D Program ofChina(No.2019YFA0109900,2019YFA0109901,2019YFA0802800,2019YFA0110803,2021YFC2700901);the Shanghai Municipal Commission for Science and Technology(No.19PJ1403500);the National Natural Science Foundation of China(No.82101802,81300383);the Scientific Research of BSKY(No.XJ2020025)from Anhui Medical University,and the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(No.2019PT310002);Young Taishan Scholar Foundation of Shandong Province,China(No.tsqn202103167);Clinical Research Center of Shandong University(China)(No.2020SDUCRCC015).

摘　　要：Genetic mutations cause aberrant splicing,one of the important molecular mechanisms in human diseases.Ivs2-654,a mutation causing aberrant splicing ofβ-globin premRNA and contributing toβ-globin deficiency,is one of the most common diseases in Southeast Asia and China."In our previous work,we found a TTTV protospacer adjacent motif(PAM)by the Cas12a system and the editing efficiency of Ivs2-654 C>T achieving 76.7%.

关 键 词：CRISPR/Cas9 China THALASSEMIA 

分 类 号：R556.61[医药卫生—血液循环系统疾病]