高等学校化学学报 ›› 2023, Vol. 44 ›› Issue (3): 20220333.doi: 10.7503/cjcu20220333

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纳米孔测序技术在核酸修饰检测中的应用

陈佳璐1,2, 黄硕1,2()   

  1. 1.南京大学化学化工学院, 生命分析化学国家重点实验室
    2.化学和生物医药创新研究院, 南京 210023
  • 收稿日期:2022-05-13 出版日期:2023-03-10 发布日期:2023-03-14
  • 通讯作者: 黄硕 E-mail:shuo.huang@nju.edu.cn
  • 基金资助:
    国家自然科学基金(31972917);中央高校基本科研业务费(020514380257);江苏省双创团队项目基金、 江苏省杰出青年基金(BK20200009);南京大学卓越计划项目(ZYJH004);上海市市级科技重大专项和生命分析化学国家重点实验室开放基金(5431ZZXM2204)

Applications of Nanopore Sequencing Technology in the Detection of Nucleic Acid Modifications

CHEN Jialu1,2, HUANG Shuo1,2()   

  1. 1.State Key Laboratory of Analytical Chemistry for Life Sciences,School of Chemistry and Chemical Engineering
    2.Chemistry and Biomedicine Innovation Center(ChemBIC),Nanjing University,Nanjing 210023,China
  • Received:2022-05-13 Online:2023-03-10 Published:2023-03-14
  • Contact: HUANG Shuo E-mail:shuo.huang@nju.edu.cn
  • Supported by:
    the National Natural Science Foundation of China(31972917);the Fundamental Research Funds for the Central Universities of China(020514380257);the Programs for High-level Entrepreneurial and Innovative Talents Introduction of Jiangsu Province, China;the Excellent Youth Foundation of Jiangsu Scientific Committee, China(BK20200009);the Excellent Research Program of Nanjing University, China(ZYJH004);the Shanghai Municipal Science and Technology Major Project, China and the Open Project of the State Key Laboratory of Analytical Chemistry for Life Science, China(5431ZZXM2204)

摘要:

DNA和RNA上广泛存在着多种化学修饰. 这些核酸修饰参与基因表达的调控, 影响生长发育等生理过程, 并可能会引发癌症等疾病. 对核酸修饰的精准识别与定位有助于理解其功能机制, 帮助相关疾病的诊断与治疗. 纳米孔测序是一种新兴的单分子测序技术, 可以根据修饰碱基与天然碱基之间阻孔信号的差异实现核酸序列中多种修饰的同时检测, 是目前检测核酸修饰最直接的方法. 本文简要介绍了纳米孔测序技术的发展和原理以及识别核酸修饰的算法工具, 总结了纳米孔测序技术在核酸修饰检测中的应用, 并对其发展前景进行了展望.

关键词: 纳米孔测序, MinION测序仪, 核酸修饰, 碱基识别

Abstract:

A wide variety of chemical modifications have been found in DNA and RNA. These nucleic acid modifications play critical roles in the regulation of gene expression, affect biological processes such as growth and development, and cause diseases including cancer. Accurate identification and localization of nucleic acid modifications can help to understand their functional mechanism, and contributes to diagnosis and treatment of relevant diseases. Nanopore sequencing is an emerging single-molecule sequencing technology and can directly detect nucleic acid modifications. It can simultaneously detect multiple modifications based on the difference in pore blockage signals between modified and canonical bases. This review briefly summarizes the principle and recent development of nanopore sequencing, computer algorithms for nucleic acid modification identification and applications of nanopore sequencing. By the end of this review, prospects of future development of nanopore sequencing is also proposed.

Key words: Nanopore sequencing, MinION sequencer, Nucleic acid modification, Base-calling

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