胚胎基因编辑技术及其在疾病治疗中的研究现状

Research status of germline gene editing as a therapy of genetic disease

胚胎基因编辑是指利用核酸酶对胚胎基因组特定位点进行的基因修饰。随着基因编辑技术的不断革新与对遗传性疾病研究不断深入,胚胎基因编辑被认为是未来治疗遗传性疾病的理想手段。然而,基因编辑技术除了伦理学问题,技术上亦存在显著缺陷如脱靶效应、嵌合体等问题。本文就胚胎基因编辑在遗传病治疗的研究进展及主要问题进行综述。

Embryo gene editing refers to gene modification of specific sites of embryonic genome by nuclease.With the continuous innovation of gene editing technology and in-depth research on genetic diseases,embryonic gene editing has become an ideal therapy for genetic diseases.However,there are still some challenges in gene editing technology including the off-target effects and mosaicism,which limit the clinical application of embryo gene editing.This article reviews the progress and main challenges of embryo gene editing in the treatment of genetic diseases.