β-地中海贫血修饰基因研究进展  

Research progress inβ-thalassemia modified gene

作　　者：龙岚 贺静[2] LONG Lan;HE Jing(Department of Medical Genetics,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 Province,Kunming,Yunnan,China,650032)

机构地区：[1]昆明理工大学医学院&附属医院医学遗传科,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5期840-844,848,共6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⁃昆明医科大学联合资助项目(2018FE001(⁃111));云南省卫生健康委员会资助项目(2019LCZXKF⁃XY04)。

摘　　要：β-地中海贫血(β-地贫)是由于β-珠蛋白基因突变后,导致β-珠蛋白链合成减少,正常合成的α-链过多而游离聚集在红细胞膜上,引起细胞膜破裂造成溶血性贫血。研究发现,在成人体内重新激活γ-珠蛋白基因(γ-基因)表达γ-珠蛋白,可以结合多余的α-珠蛋白,缓解了β-地贫患者的贫血程度。本文从Xmn1-HBG2基因、HBS1L-MYB基因、反式作用因子、红系相关转录因子和锌指转录因子对γ-基因调控作用机制进行综述。以期深入理解它们在β-地贫病中对γ-基因的调控作用和意义,并为临床治疗等提供指导,为β-地贫患者提供治疗的可能。β-thalassemia is due to the decrease ofβ-globin chain synthesis after globin gene mutation and the excessiveα-chain of normal synthes is free accumulation on the erythrocyte membrane,and leads to the rupture of cell membrane and hemolytic anemia.Extensive research found that reactivation ofγ-gene expression in adults can combine excessα-globin and relieve anemia symptoms inβ-thalassemia patients.In this review,we described the regulatory mechanisms of Xmn1-HBG2 genes,HBS1 L-MYB genes,trans-acting factors,erythroid related transcription factors and zinc finger transcription factors.In order to understanding their regulatory role and significance ofγ-genes inβ-thalassemia,and providing guidance for clinical treatment,and providing treatment possibilities forβ-thalassemia patients.

关 键 词：Β-地中海贫血 修饰基因 胎儿血红蛋白 

分 类 号：R556.61[医药卫生—血液循环系统疾病]