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)
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)
出处
《国际眼科纵览》
2022年第2期161-166,共6页
International Review of Ophthalmology
关键词
视网膜色素变性
剪接因子基因
基因变异
retinitis pigmentosa
pre-mRNA splicing factor genes
pathogenic variants
