Abstract
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.
基金项目
国家重点研发计划(2022YFB3205600)
国家自然科学基金(82004341)
中国博士后科学基金(2022M712286)
四川省科技计划(2020JDTD0022)
Sichuan Administration of Traditional Chinese Medicine(2023MS078)
Sichuan University Postdoctoral Interdisciplinary Innovation Fund(JCXK2225)
维普
万方数据