van Roon-Mom Willeke M C, Aartsma-Rus Annemieke
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Methods Mol Biol. 2012;867:79-96. doi: 10.1007/978-1-61779-767-5_6.
Antisense-mediated exon skipping has multiple therapeutic applications. This chapter gives an overview of how this tool has been employed to restore normal splicing for cryptic splicing mutations, to switch between alternative splicing isoforms, to induce exon inclusion, to correct the reading frame to allow the production of internally deleted proteins, or to induce reading frame disruptions to achieve partial protein knockdown. For each application, examples are discussed and the current state of the art is described.
反义介导的外显子跳跃具有多种治疗应用。本章概述了如何利用这一工具恢复隐匿性剪接突变的正常剪接、在可变剪接异构体之间进行切换、诱导外显子包含、校正阅读框以允许产生内部缺失的蛋白质，或诱导阅读框破坏以实现部分蛋白质敲低。针对每种应用，讨论了相关实例并描述了当前的技术水平。
