During the development of an individual, expression of human β-like globin genes displays two switches: from embryonic ( ε- ) to fetal ( Gγand Aγ) globin and from the fetal to adult ( β- ) globin. β-thalassemia and sickle cell disease ( SCD ) are two of the most common genetic disorders in the world. Reactivation of fetal γ-globin gene in adulthood had been considered as an effetive strategy for the treatment of the diseases. Several transcriptional factors and cofactors that can promote γ-globin gene expression have been identified, and some pharmaceuticals that can induce reactivation of γ-globin gene in the adult have also been reported. Some studies have partially explored the mechanisms by which these factors and pharmaceuticals function. These studies have provided important clues and preliminary experimental evidence for effective treatment of SCD and β-thalassemia by increasing fetal hemoglobin production in the adult.%在个体发育过程中,人β类珠蛋白基因的表达存在从胎儿(γ)到成人(β)珠蛋白基因的表达转换(或称开关).β-地中海贫血和镰刀型贫血症是两种最为常见的严重危害人类健康的单基因遗传病,通过诱导胎儿期血红蛋白(HbF,α2γ2)在成人期表达对该病的治疗是一种有效的策略.一些活化γ珠蛋白基因表达的转录因子和辅助因子已经被鉴定,一些可以增加胎儿血红蛋白在成人红细胞中表达的药物也已被鉴别和实验,它们的作用机制被部分揭示,这些研究为发展通过活化γ-珠蛋白基因治疗镰刀形细胞贫血和重型β-地中海贫血的方法提供了重要线索和实验依据.
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