首页|Direct detection of C9orf72 hexanucleotide repeat expansions by nanopore biosensor

Direct detection of C9orf72 hexanucleotide repeat expansions by nanopore biosensor

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Diagnostic C9orf72 hexanucleotide repeat expansions(C9-HRE)is essential for the early and accurate di-agnosis 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 smegma-tis 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 detec-tion strategy is user-friendly and has a strong anti-interference ability,thus providing a powerful tool for clinical diagnosis.

MspA nanoporeC9orf72 HREDetectionBiosensorCatalytic hairpin assembly

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

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State Key Laboratory of Biotherapy and Cancer Center,West China Hospital,Sichuan University and Collaborative Innovation Center of Biotherapy,Chengdu 610041,China

Division of Endocrinology and Metabolism,West China School of Medicine/West China Hospital,Sichuan University,Chengdu 610041,China

Department of Endocrinology and Metabolism,Affiliated Hospital of North Sichuan Medical College,North Sichuan Medical College,Nanchong 637000,China

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

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

Tianfu Jincheng Laboratory,City of Future Medicine,Chengdu 641400,China

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国家重点研发计划国家自然科学基金中国博士后科学基金四川省科技计划Sichuan Administration of Traditional Chinese MedicineSichuan University Postdoctoral Interdisciplinary Innovation Fund

2022YFB3205600820043412022M7122862020JDTD00222023MS078JCXK2225

2024

10.1016/j.cclet.2023.109419

中国化学快报(英文版)
中国化学会

中国化学快报(英文版)

CSTPCD
影响因子：0.771
ISSN：1001-8417
年,卷(期)：2024.35(5)
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