基因编辑技术在β-地中海贫血治疗中的研究  

Research of Gene Editing Technology in the Treatment ofβ-Thalassemia

作　　者：郑俊豪 徐两蒲[1] 黄海龙[1,2] ZHENG Jun-Hao;XU Liang-Pu;HUANG Hai-Long(Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital,College of Clinical Medicine for Obstetrics&Gynecology and Pediatrics,Fujian Medical University,Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect,Fuzhou 350001,Fujian,China;School of Medical Technology and Engineering,Fujian Medical University,Fuzhou 350004,Fujian,China)

机构地区：[1]福建省妇幼保健院/福建医科大学附属医院医学遗传诊疗中心,福建省产前诊断与出生缺陷重点实验室,福州350001 [2]福建医科大学医学技术与工程学院,福州350004

出　　处：《中国生物化学与分子生物学报》2023年第6期798-804,共7页Chinese Journal of Biochemistry and Molecular Biology

基　　金：国家自然科学基金项目(No.81970170);福建省自然科学基金(No.2019J01510)资助。

摘　　要：β-地中海贫血(β-地贫)是一种全球性的单基因遗传病,目前针对该病的治疗方法除造血干细胞移植外都是对症治疗,无法达到根治效果。基因治疗是指将外源正常基因导入靶细胞,以纠正或补偿缺陷和异常基因引起的疾病,达到根治疾病的目的。近年,随着基因编辑技术的发展,基因治疗越来越成熟完善,在β-地贫治疗中的应用也变得广泛。目前,基因编辑技术发展经历了4个阶段,分别为ZFN技术、TALEN技术、CRISPR/Cas9技术以及单碱基编辑技术。本综述将总结上述4种基因编辑技术在β-地贫治疗中的原理、研究、优缺点以及局限性,旨在优化β-地贫的治疗策略。β-Thalassemia(β-thal)is a global genetic disease caused by single gene mutations.Besides hematopoietic stem cell transplantation,the current treatment methods all target its symptoms and cannot achieve a radical effect.Gene therapy refers to the introduction of exogenous wild-type genes into target cells to correct or compensate for diseases caused by defects and abnormal genes to cure diseases.In recent years,with the development of gene editing technologies,gene therapy has become more and more mature and perfect,and its application in the treatment ofβ-thal has also become more widespread.Up till now,the gene editing technology has developed through four stages:zinc finger nuclease(ZFN)technology,transcription activator-like effector nuclease(TALEN)technology,clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated systems Cas9 technology,and single base editing technology This review will summarize the principles,research,advantages and disadvantages,and limitations of the four gene editing technologies above in the treatment ofβ-thal,aiming to optimize the treatment strategy ofβ-thal.

关 键 词：Β-地中海贫血 基因治疗 基因编辑技术 CRISPR/Cas9 

分 类 号：R394[医药卫生—医学遗传学]