前体mRNA剪接因子基因变异与视网膜色素变性的关系  

Advances in retinitis pigmentosa due to pre-mRNA splicing factor variants

作　　者：张昕 许可 李杨 Zhang Xin;Xu Ke;Li Yang(Beijing Ophthalmology&Visual Sciences Key Laboratory,Beijing Tongren Eye Center,Beijing Institute of Ophthalmology,BeijingTongren Hospital,Capital Medical University,Beijing100730,China)

机构地区：[1]首都医科大学附属北京同仁医院,北京同仁眼科中心,北京市眼科研究所,眼科学与视觉科学北京市重点实验室,100730

出　　处：《国际眼科纵览》2022年第2期161-166,共6页International Review of Ophthalmology

摘　　要：剪接是真核生物基因表达至关重要的一步,剪接异常导致疾病的发生。目前已知8种在全身广泛表达的前体mRNA剪接因子基因(PRPF3、PRPF4、PRPF6、PRPF8、PRPF31、SNRNP200、RP9及DHX38)变异可导致视网膜色素变性。本文就这些基因致病变异特点、致病机制、携带这些基因变异的视网膜色素变性患者的临床特征及基因治疗的研究进展进行综述。(国际眼科纵览,2022,46:161-166)Splicing is a crucial step in eukaryotic gene expression.Aberrant pre-mRNA splicing is a major cause of human disease.To date,eight ubiquitously expressed pre-mRNA splicing factor genes(PRPF3,PRPF4,PRPF6,PRPF8,PRPF31,SNRNP200,RP9,and DHX38)have been identified for retinitis pigmentosa(RP).This review introduces the characteristics of pathogenic variants of pre-mRNA splicing factor genes as well as pathogenic mechanisms,clinical features of RP patients carrying these variants,and research advances in gene therapy.(Int Rev Ophthalmol,2022,46:161-166)

关 键 词：视网膜色素变性 剪接因子基因 基因变异 

分 类 号：R774.1[医药卫生—眼科]