Recent advances in enzyme-free and enzyme-mediated single-nucleotide variation assay in vitro

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外文摘要：Single-nucleotide variants(SNVs)are the most common type variation of sequence alterations at a specific location in the genome,thus involving significant clinical and biological information.The assay of SNVs has engaged great awareness,because many genome-wide association studies demonstrated that SNVs are highly associated with serious human diseases.Moreover,the investigation of SNV expression levels in single cells are capable of visualizing genetic information and revealing the complexity and heterogeneity of single-nucleotide mutation-related diseases.Thus,developing SNV assay approaches in vitro,particularly in single cells,is becoming increasingly in demand.In this review,we summarized recent progress in the enzyme-free and enzyme-mediated strategies enabling SNV assay transition from sensing interface to the test tube and single cells,which will potentially delve deeper into the knowledge of SNV functions and disease associations,as well as discovering new pathways to diagnose and treat diseases based on individual genetic profiles.The leap of SNV assay achievements will motivate observation and measurement genetic variations in single cells,even within living organisms,delve into the knowledge of SNV functions and disease associations,as well as open up entirely new avenues in the diagnosis and treatment of diseases based on individual genetic profiles.

外文关键词：

single-nucleotide variantpoint mutationin vitroenzyme-free assayenzyme-mediated assay

作者：

Erhu Xiong、Pengfei Liu、Ruijie Deng、Kaixiang Zhang、Ronghua Yang、Jinghong Li

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作者单位：

Key Laboratory of Chemical Biology &Traditional Chinese Medicine Research,Ministry of Education,College of Chemistry and Chemical Engineering,Hunan Normal University,Changsha 410081,China

College of Biomass Science and Engineering,Healthy Food Evaluation Research Center,Sichuan University,Chengdu 610065,China

School of Pharmaceutical Sciences,Key Laboratory of Targeting Therapy and Diagnosis for Critical Diseases,Zhengzhou University,Zhengzhou 450001,China

Department of Chemistry,Center for Bioanalytical Chemistry,Key Laboratory of Bioorganic Phosphorus Chemistry & Chemical Biology,Tsinghua University,Beijing 100084,China

Beijing Institute of Life Science and Technology,Beijing 102206,China

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基金：

国家自然科学基金国家自然科学基金国家自然科学基金国家重点研发计划New Cornerstone Science FoundationScience and Technology Innovation Program of Hunan Province

项目编号：

2227404622334005219040422021YFA12001042022RC1114

出版年：

2024

DOI：

10.1093/nsr/nwae118

国家科学评论(英文版)

CSTPCD

ISSN：

年,卷(期)：2024.11(5)

参考文献量107