基于焦磷酸测序技术的 基因突变检测在精准医疗中的应用研究进展

基因突变检测在肿瘤等疾病的早期诊断、个体化给药指导、疾病治疗进程与耐药监控等方面具有极其重要的意义。随着测序技术的 不断发展，DNA 突变的检测与分析已为病毒感染、血液病和实体瘤等疾病的个体化诊治提供重要参考。焦磷酸测序技术是一种基于生物发 光法测定焦磷酸盐的实时 DNA 测序技术，其用于 DNA 序列分析时不需电泳和荧光标记，定量性能好，结果准确，易于实现自动化，在基 因突变检测分析与肿瘤等疾病诊治中发挥巨大作用。综述基于焦磷酸测序技术的基因突变检测在分子靶向个体化治疗和疾病诊断中的应用 研究进展。

Research Progress in Application of Gene Mutation Detection by Pyrosequencing Technique in Precision Medicine

Gene mutation detection has great significance in early diagnosis, individual medication guidance and monitoring of treatment response and drug resistance. With the continuous development of sequencing technology, DNA mutation detection has provided important references for individualized diagnosis and treatment of the diseases such as viral infections, blood diseases and solid tumors. Pyrosequencing is a real-time DNA sequencing technology based on pyrophosphate (PPi) detection by bioluminescent method without the need of electrophoresis and fluorescence labeling for DNA sequencing. It is characterized by high quantitative performance, accurate analysis and easy automation. Pyrosequencing provides a reliable method to detect gene mutation which is useful in disease diagnosis and treatment. The research progress in application of gene mutation detection by pyrosequencing technique in molecular targeting for individualized treatment and disease diagnosis was reviewed.