造血干细胞基因治疗β-珠蛋白异常疾病的研究与展望  

Advances in and Prospect of Hematopoietic Stem Cell Gene Therapy for β-globin Disorders

作　　者：刘亚楠 杨冠恒[1] 蔡勤 张敬之[1,2] LIU Yanan;YANG Guanheng;CAI Qin;ZHANG Jingzhi(Children,'s Hospital Affiliated to Shanghai Jiao Tong University, Children' s Hospital of Shanghai, Shanghai Institute of Medical Genetics, Shanghai, 200040, China;Key Laboratory of Embryo Molecular Biology, Ministry of Health, Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, 200040, China)

机构地区：[1]上海交通大学附属儿童医院,上海市儿童医院,上海交通大学医学遗传研究所,上海市200040 [2]卫生部医学胚胎与分子生物学重点实验室,上海市胚胎与生殖工程重点实验室,上海市200040

出　　处：《医学分子生物学杂志》2019年第1期87-92,共6页Journal of Medical Molecular Biology

基　　金：国家自然科学基金面上项目(No.81570172).

摘　　要：β-珠蛋白异常疾病(B-globin disorders)是由于体内合成β-珠蛋白肽链缺陷,导致溶血性贫血等—系列的症状,严重影响了患者的生活质量。而造血干细胞(hematopoietic stem cells, HSCs)移植是根治此类疾病的唯一方法。现以β-珠蛋白异常疾病为主,阐述近年来依托造血干细胞为主的基因治疗手段的研究进展,并将基因治疗中所使用病毒载体、基因组编辑技术的优缺点和影响临床应用的要素以及未来的研究趋势综述如下。β-globin disorders is caused by the defects of β-globin synthesis, which results in a series of symptoms such as hemolytic anemia, and tends to seriously affect the quality of life of the victims. Hematopoietic stem cell transplantation is the only treatment available for the condition. This paper reviews the advances in the application of hematopoietic stem celld in the treatment of β-globin disorders, discusses the the advantages and the disadvantages of viral vectors and genome editing techniques used in gene therapy and envisions the future future trends of the treatment approach.

关 键 词：Β-地中海贫血 镰状血红蛋白病 基因治疗 造血干细胞 基因组编辑技术 

分 类 号：R556.7[医药卫生—血液循环系统疾病]