论文部分内容阅读
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。
30% of human pathogenic mutations are nonsense mutations, nonsense mutations can lead to many diseases. Nonsense Mutant with nonsense mutation read-through activity, can induce the gene to restore its function, is a gene therapy drug. Nonsense mutations in gene coding regions can result in the early termination of protein translation at sites of nonsense mutations, resulting in loss of protein function, causing many diseases including genetic diseases and tumors. A small number of compounds with nonsense mutations read-through, can induce full-length protein translation, is a potential therapeutic drug. At present, the activity test methods of read-through include two major types of protein truncation test and reporter system. This review reviews the development and recent advances in the non-passative mutational read-through assay and provides a reference for the establishment of high-throughput drug screening methods.