摘要
单核苷酸多态性(single nucleotide polymorphism,SNP)作为人类基因组中遗传变异的主要形式,在个体化诊疗、群体遗传学及法医学等领域具有重要价值。本文系统综述了SNP检测技术的研究进展,详细阐述了多种检测技术的原理、优势与局限性,包括基于各种聚合酶链式反应(polymerase chain reaction,PCR)技术、恒温扩增技术、测序技术、单细胞测序技术等,并探讨了多技术融合、人工智能和大数据在SNP检测中的应用。当前,SNP检测技术正逐步向高通量、高灵敏度和自动化方向发展,但仍面临复杂基因组区域检测准确性、低成本设备临床验证等挑战。未来研究需聚焦多维数据整合、智能诊断工具开发及伦理治理体系构建,以推动精准医学的革新。
Single nucleotide polymorphism(SNP)is the most prevalent form of genetic variation within the human genome and is of considerable importance in the fields of personalized medicine,population genetics,and forensic science.This review comprehensively summarizes recent research progress in SNP detection technologies,elaborating the underlying principles,advantages,and limitations of various methodologies,including polymerase chain reaction(PCR)-based techniques,isothermal amplification-based methods,various sequencing technologies(Sanger sequencing,next-generation sequencing and single-cell sequencing).Furthermore,the integration of cross-technology integration,the utilization of artificial intelligence(AI)and big data analytics are discussed.Current trends in SNP detection are shifting toward high-throughput,high-sensitivity,and automated workflows.However,challenges persist,particularly in ensuring accuracy within complex genomic regions and validating low-cost devices for clinical use.Future research needs to focus on the integration of multidimensional data,the development of intelligent diagnostic tools,and the establishment of ethical governance frameworks to facilitate innovation in precision medicine.
作者
王紫嫣
吴琳
张钰晗
赵秀丽
万振洲
WANG Ziyan;WU Lin;ZHANG Yuhan;ZHAO Xiuli;WAN Zhenzhou(School of Medicine,Anhui University of Science and Technology,Huainan 232001,China;Medical Laboratory of Taizhou Fourth People’s Hospital,Taizhou 225300,China;The First School of Clinical Medicine,Southern Medical University,Guangzhou 510515,China)
出处
《生命的化学》
2025年第5期885-896,共12页
Chemistry of Life
基金
泰州市科技支撑计划(社会发展)项目(TSZD-202301)
ICGEB-融越临床研究基金项目(Hxtzsy-2024-01)。
关键词
单核苷酸多态性
药物基因组学
PCR
恒温扩增
二代测序
人工智能
single nucleotide polymorphism
pharmacogenomics
PCR
isothermal amplification
next-generation sequencing
artificial intelligence
