计量学报2025，Vol.46Issue(5)：769-778,10.DOI:10.3969/j.issn.1000-1158.2025.05.21
基因拷贝数变异检测技术及其应用
Detection Technology of Gene Copy Number Variations and its Application
摘要
Abstract
Gene copy number variations(CNV)is a complex type of variation,and many studies have proved that CNV is directly related to the occurrence and development of human genetic diseases and cancer.Accurate detection of CNV is of great significance for early diagnosis,targeted therapy,efficacy monitoring and prognosis evaluation of cancer patients.The definition and characteristics of CNV was introduced,the principles and applications of six detection methods,namely fluorescence in situ hybridization,fluorescence quantitative PCR,digital PCR,high-throughput sequencing,microarray comparative genome hybridization chip and nucleic acid mass spectrometry were described,and the key points in the application of CNV detection methods were pointed out,such as the influence of unified criteria,selection of reference genes,application of standard substances,selection of database,sample pre-processing and instrument calibration on the results,and the advantages and disadvantages of different detection methods were summarized,which provided reference significance for other researchers to choose suitable detection methods.关键词
生物计量学/基因突变/拷贝数变异/数字PCR/NGSKey words
biometrology/genic mutation/copy number variations/digital PCR/NGS分类
通用工业技术引用本文复制引用
汤艳茹,牛春艳,董莲华,杨靖亚..基因拷贝数变异检测技术及其应用[J].计量学报,2025,46(5):769-778,10.基金项目
中国计量科学研究院基本科研业务费(AKYZD2202) （AKYZD2202）
