Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Methods Mol Biol. 2024;2750:11-17. doi: 10.1007/978-1-0716-3605-3_2.
Five distinct gene therapy approaches have been developed for treating AATD. These approaches include knockout of the mutant (PiZ) allele by introduction of double-strand breaks (DSBs) and subsequent creation of insertions and deletions (indels) by DSB repair, homology-directed repair (HDR) targeted to the mutation site, base editing, prime editing, and alternatively targeted knock-in techniques. Each approach will be discussed and a brief summary of a standard CRISPR-Cas9 targeting method will be presented.
已经开发了五种不同的基因治疗方法来治疗 AATD。这些方法包括通过引入双链断裂 (DSB) 来敲除突变 (PiZ) 等位基因，然后通过 DSB 修复产生插入和缺失 (indels)，同源定向修复 (HDR) 靶向突变位点，碱基编辑，Prime 编辑和替代靶向敲入技术。每种方法都将进行讨论，并简要介绍一种标准的 CRISPR-Cas9 靶向方法。
