Xiong Erhu, Liu Pengfei, Deng Ruijie, Zhang Kaixiang, Yang Ronghua, Li Jinghong
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.
Natl Sci Rev. 2024 Mar 27;11(5):nwae118. doi: 10.1093/nsr/nwae118. eCollection 2024 May.
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 , 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.
单核苷酸变异（SNV）是基因组中特定位置序列改变最常见的变异类型，因而涉及重要的临床和生物学信息。SNV检测已引起广泛关注，因为许多全基因组关联研究表明，SNV与严重人类疾病高度相关。此外，对单细胞中SNV表达水平的研究能够可视化遗传信息，并揭示单核苷酸突变相关疾病的复杂性和异质性。因此，开发SNV检测方法，尤其是在单细胞中的检测方法，需求日益增加。在本综述中，我们总结了无酶和酶介导策略的最新进展，这些策略使SNV检测能够从传感界面过渡到试管和单细胞，这可能会更深入地了解SNV功能和疾病关联，以及发现基于个体遗传特征诊断和治疗疾病的新途径。SNV检测成果的飞跃将推动对单细胞甚至活生物体内遗传变异的观察和测量，深入了解SNV功能和疾病关联，并为基于个体遗传特征的疾病诊断和治疗开辟全新途径。
