β-地中海贫血基因治疗的研究进展  

Research Progress in Gene Therapyforβ⁃thalassemia

作　　者：邓玲 贺静[2] DENG Ling;HE Jing(Meicical School&Affiliated Hospital,Kunming University of Science and Technology,Kunming,Yunnan,China,650032;Department of Medical Genetics,the First People's Hospital of Yunnan,Kunming,Yunnan,China,650032)

机构地区：[1]昆明理工大学医学院&附属医院,云南昆明650032 [2]云南省第一人民医院医学遗传科,云南昆明650032

出　　处：《分子诊断与治疗杂志》2021年第2期169-173,共5页Journal of Molecular Diagnostics and Therapy

基　　金：云南省技术创新人才培养项目(2019HB071);云南省科技厅-昆明医科大学应用基础研究联合专项资金项目(2018FE001(-111));云南省临床医学中心开放项目(2019LCZXKF-XY04)。

摘　　要：β-地中海贫血(β-地贫)是比较常见的遗传性血液病。近年来随着基因治疗的快速发展,β-地贫的基因治疗也取得了显著进展。β-地贫的基因治疗主要集中在β-珠蛋白基因(HBB)和γ-珠蛋白基因(HBG)。一方面通过对HBB基因进行原位修复或导入正常外源基因来增加β-珠蛋白表达;另一方面通过基因编辑来抑制γ-珠蛋白阻遏物(如BCL11A)的表达,重新诱导胎儿血红蛋白(HbF)产生。本文将对β-地贫基因治疗的最新研究进展进行概述。Thalassemia is the most common inherited blood disorders globally.With the development of gene therapy techniques,gene therapy ofβ⁃thalassemia has also made remarkable progress in recent years,which mainly focuses on theβ⁃globin(HBB)genes orγ⁃globin genes.This can be reached by increasing the expression ofβ⁃globin by in situ gene correction of HBB or delivery of a exogenous normal gene,or inhibiting the expression ofγ⁃globin gene repressors by gene editing to induce the rexpression of fetal haemoglobin.In this paper,we will review the recent research progress in gene therapy ofβ⁃thalassemia.

关 键 词：Β-地中海贫血 基因治疗 基因编辑 

分 类 号：R556.61[医药卫生—血液循环系统疾病]