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质谱技术在核酸检测分析中的研究进展

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质谱技术是一种基于质谱仪设备检测物质分子量的谱学技术方法.质谱类型众多、功能各异,在各个学科领域中广泛用于科学研究与应用技术开发.近年来,质谱技术在核酸检测分析中显现出巨大的潜力,尤其是基于基质辅助激光解吸电离飞行时间质谱的核酸检测分析技术,因其快速、高通量、准确等特性而成为研究热点.采用质谱技术进行核酸研究,突出表现在对单核苷酸多态性、基因突变、DNA甲基化及DNA拷贝数变异的检测分析.本文对质谱技术在核酸检测中的研究与应用进行阐述,以期为基于质谱的新型核酸检测技术的开发与应用提供参考.
Research progress of mass-spectrometric technique in nucleic acid detection and analysis
Mass spectrometry is a spectroscopic technique for detecting the molecular weight of substances based on mass spectrometry equipment.Many types of mass spectrometry with different functions are widely used in scientific research and application technology development in various disciplines.In recent years,mass spectrometry has shown great potential in nucleic acid detection.In particular,matrix-assisted laser desorption/ionization time of flight mass spectrometry has become a research hotspot due to its velocity,high throughput,and accuracy.The nucleic acid research by mass spectrometry is highlighted in single nucleotide polymorphism,gene mutation,DNA methylation analysis,and DNA copy number variations.This article reviews the research and application of mass spectrometry in nucleic acid detection and analysis to provide a reference for the development of new detection technology for nucleic acid based on mass spectrometry.

Mass spectrometryDNA methylationSingle nucleotide polymorphismDNA copy number variationsMultiplex polymerase chain reaction-Mass spectrometry mini-sequencing

赵欣、肖迪

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传染病溯源预警与智能决策全国重点实验室 中国疾病预防控制中心传染病预防控制所,北京 102206

质谱 DNA甲基化 单核苷酸多态性 DNA拷贝数变异 多重PCR-质谱微测序

横向课题传染病防控能力提升青年基金项目

3307508067

2024

中华预防医学杂志
中华医学会

中华预防医学杂志

CSTPCD北大核心
影响因子:1.652
ISSN:0253-9624
年,卷(期):2024.58(1)
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