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刊物信息
期刊名称:药物分析杂志
主管单位:中国科学技术协会
主办单位:中国药学会
承办:中国食品药品检定研究院
主编:金少鸿
编辑部主任:粟晓黎
地址:北京天坛西里2号
邮政编码:100050
电话:010-67012819,67058427
电子邮箱:ywfx@nicpbp.org.cn
国际标准刊号:ISSN 0254-1793
国内统一刊号:CN 11-2224/R
邮发代号:2-237

 

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基因治疗药物无义突变通读活性检测方法的研究进展

Research progress of methods detecting nonsense mutation readthrough activities of gene therapy drugs

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出版年·卷·期(页码):2016,36 (10):0-0
DOI: 10.16155/j.0254-1793.2017.01.01
-----摘要:-------------------------------------------------------------------------------------------

30%人类致病基因突变属无义突变,无义突变可导致众多疾病。无义突变通读剂具有无义突变通读活性,可诱导基因恢复其功能,属于基因治疗药物。基因编码区发生的无义突变可致蛋白翻译在无义突变位点提前终止,导致蛋白功能缺失,引起包括遗传病、肿瘤在内的众多疾病。少数化合物具有无义突变通读作用,可诱导全长蛋白翻译,是一种潜在的治疗药物。目前通读剂活性检测方法主要包括蛋白质截短试验和报告基因系统两大类型。本文回顾了无义突变通读活性检测方法的发展及最新进展,为药物高通量筛选方法的建立提供参考。

-----英文摘要:---------------------------------------------------------------------------------------

Nonsense mutation accounts for about 30% of human disease-causing alleles and is one of most frequent cause of many diseases. Nonsense mutation readthrough compounds,a kind of gene therapy drugs,can read through nonsense mutations and allow translation of full-length functional protein. Nonsense mutation in gene coding region can prematurely terminate translation and result in the loss of protein function,which is responsible for many diseases including genetic diseases and cancer. Some compounds have demonstrated readthrough ability and can induce translation of full-length protein,suggesting their possibility of being exploited as a potential therapy. To date,the most useful screening assays for readthrough compounds include protein truncation test and fluorescence reporter assay. Here,we review the protein truncation test and fluorescence reporter assay and describe the pros and cons of each method,providing information for the establishment of high throughput screening assay.

-----参考文献:---------------------------------------------------------------------------------------
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