《生命科学》 2022, 34(10): 1217-1226

基因编辑技术在疾病诊断中的应用

王鑫阁^1,2,3 , 毛邦炜^1,2,3 , 李　伟^1,2,3,*

¹中国科学院动物研究所，干细胞与生殖生物学国家重点实验室，北京 100101 ²中国科学院干细胞与再生医学创新研究院，北京 100101 ³中国科学院大学，北京 100049

摘　要：

对疾病进行准确的检测和诊断是疾病治疗的先决条件。分子诊断由于其灵敏、便捷、能够在较早窗口期开展筛查的特点，已经在疾病诊断中广泛应用。本文基于基因编辑技术在疾病诊断中的应用，一方面阐述了基因编辑技术在诊断中较为常见的工作原理，另一方面针对不同应用场景讨论了基因编辑在疾病诊断中的应用情况，包括大规模实验室检测与家用检测两种模式。通过理性设计和多学科工程化，基于基The application of gene editing in disease diagnosis因编辑的分子检测平台会在疾病诊断领域产生更多突破性的应用和变革。

通讯作者：李　伟 , Email:liwei@ioz.ac.cn

The application of gene editing in disease diagnosis

WANG Xin-Ge^1,2,3 , MAO Bang-Wei^1,2,3 , LI Wei^1,2,3,*

¹State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China ²Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing 100101, China ³University of Chinese Academy of Sciences, Beijing 100049, China

Abstract:

Prompt and correct treatment of disease depends on detection and diagnosis. Molecular diagnosis has been playing an increasingly important role in disease diagnosis because of its sensitivity, convenience and early screening window. Based on the application of gene editing technology in disease diagnosis, in this paper, on the one hand, we explain the common working principle of gene editing technology in diagnosis, and on the other hand, discuss the application of gene editing in disease diagnosis for different application scenarios, including two modes of large-scale laboratory testing and home testing. Through rational design and multidisciplinary engineering, molecular detection platform based on gene editing will produce more breakthrough applications and changes in the field of disease diagnosis.

Communication Author：LI Wei , Email:liwei@ioz.ac.cn