遗传 ›› 2016, Vol. 38 ›› Issue (7): 623-633.doi: 10.16288/j.yczz.15-519
付洋, 舒在悦, 顾鸣敏
收稿日期:
2015-12-24
出版日期:
2016-07-20
发布日期:
2016-07-20
作者简介:
付洋,2014级临床医学专业4+4学生,专业方向:临床医学。E-mail: fuyang19920114@sina.com
基金资助:
Yang Fu, Zaiyue Shu, Mingmin Gu
Received:
2015-12-24
Online:
2016-07-20
Published:
2016-07-20
摘要: 据统计,全球有近1/10的遗传病由无义突变(Nonsense mutation)所致。无义突变通常导致翻译提前终止,生成截短的、无功能的蛋白质。近年来,促通读药物在无义突变所致遗传病的治疗方面取得了明显进展。然而,由于翻译终止的机制仍不甚明了,因此促通读药物的机制研究和临床应用面临着新的挑战。本文主要探讨了促通读药物治疗无义突变所致遗传病的作用机制,以及促通读药物在临床应用方面的研究进展、存在的问题及应对策略。
付洋, 舒在悦, 顾鸣敏. 促通读药物的作用机制与临床应用[J]. 遗传, 2016, 38(7): 623-633.
Yang Fu, Zaiyue Shu, Mingmin Gu. The functional mechanisms and clinical application of read-through drugs[J]. HEREDITAS(Beijing), 2016, 38(7): 623-633.
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