影响β-地中海贫血表型的遗传修饰作用
收稿日期: 2019-05-13
修回日期: 2019-07-29
网络出版日期: 2019-08-05
基金资助
国家重点研发计划(2018YFA0507803);国家自然科学基金项目资助(81870148)
Effect of genetic modifiers on the clinical severity of β-thalassemia
Received date: 2019-05-13
Revised date: 2019-07-29
Online published: 2019-08-05
Supported by
Supported by the National Key Research and Development Program of China(2018YFA0507803);The National Natural Science Foundation of China(81870148)
张倩倩,商璇,林宛颖,徐湘民 . 影响β-地中海贫血表型的遗传修饰作用[J]. 遗传, 2019 , 41(8) : 669 -676 . DOI: 10.16288/j.yczz.19-131
β-thalassemia (β-thal) is a fatal and disabling inherited blood disorder with diverse phenotypes. The same or similar genotype of β-thal can manifest variable clinical severities. It is the hotspot and emphasis in the field of hematopathy and genetic diseases to explore genetic modifiers that influence the phenotype of β-thal. This review illustrates the deteriorating and amelioratig modifiers from two aspects: genotypes of α-globin and quantitative trait locus of fetal hemoglobin (Hb F). Variations of transcription factors which reactive the γ-globin gene expression and β-globin cluster cis-acting elements were introduced emphatically. Finally, clinical applications and future development prospects of β-thal genetic modifiers are introduced by examples.
Key words： β-thalassemia; fetal hemoglobin; genetic modifier effects; gene editing
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