Direct detection of C9orf72 hexanucleotide repeat expansions by nanopore biosensor  

作　　者：Xinqiong Li Guocheng Rao Xi Peng Chan Yang Yanjing Zhang Yan Tian Xianghui Fu Jia Geng 

机构地区：[1]State Key Laboratory of Biotherapy and Cancer Center,West China Hospital,Sichuan University and Collaborative Innovation Center of Biotherapy,Chengdu 610041,China [2]Division of Endocrinology and Metabolism,West China School of Medicine/West China Hospital,Sichuan University,Chengdu 610041,China [3]Department of Endocrinology and Metabolism,Affiliated Hospital of North Sichuan Medical College,North Sichuan Medical College,Nanchong 637000,China [4]Division of Endocrinology and Metabolism,National Clinical Research Center for Geriatrics,State Key Laboratory of Biotherapy and Cancer Center,West China Hospital,Sichuan University and Collaborative Innovation Center of Biotherapy,Chengdu 610041,China [5]Department of Laboratory Medicine,State Key Laboratory of Biotherapy,Med-X Center for Manufacturing,West China Hospital,Sichuan University and Collaborative Innovation Center,Chengdu 610041,China [6]Tianfu Jincheng Laboratory,City of Future Medicine,Chengdu 641400,China

出　　处：《Chinese Chemical Letters》2024年第5期351-354,共4页中国化学快报（英文版）

基　　金：supported by a grant from the National Key Research and Development Program of China(No.2022YFB3205600);National Natural Science Foundation of China(No.82004341);China Postdoctoral Science Foundation(No.2022M712286);Sichuan Science and Technology Program(No.2020JDTD0022);Sichuan Administration of Traditional Chinese Medicine(No.2023MS078);Sichuan University Postdoctoral Interdisciplinary Innovation Fund(No.JCXK2225)。

摘　　要：Diagnostic C9orf72 hexanucleotide repeat expansions(C9-HRE)is essential for the early and accurate diagnosis of amyotrophic lateral sclerosis(ALS)and will provide support for the prognosis and gene therapy of ALS.In the present study,by combining catalytic hairpin assembly(CHA)with Mycobacterium smegmatis porin A(MspA)nanopore,a new nanopore-based strategy for the detection of C9-HRE was reported.Less than 30 repeats of C9-HRE could be detected via this method,and the results have the potential to help distinguish between patients and healthy individuals.Moreover,the method demonstrated its great specificity for C9-HRE by identifying other repeat expansions.Given the high selectivity,this approach had been successfully used to detect C9-HRE in cell and blood samples with high accuracy.This detection strategy is user-friendly and has a strong anti-interference ability,thus providing a powerful tool for clinical diagnosis.

关 键 词：MspA nanopore C9orf72 HRE Detection BIOSENSOR Catalytic hairpin assembly 

分 类 号：TP212.3[自动化与计算机技术—检测技术与自动化装置] TB383.1[自动化与计算机技术—控制科学与工程] R744.8[一般工业技术—材料科学与工程]