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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。
Detection of gene mutations in the early diagnosis of cancer and other diseases, individualized drug delivery guidance, disease treatment process and drug resistance monitoring is extremely important. With the continuous development of sequencing technology, the detection and analysis of DNA mutations have provided important reference for the individual diagnosis and treatment of viral infections, hematological diseases and solid tumors. Pyrosequencing is a real-time DNA sequencing technique based on bioluminescence for pyrophosphate detection. It does not need electrophoresis and fluorescence labeling for DNA sequence analysis, has good quantitative performance, accurate results and easy to automate. In the detection of gene mutation Analysis and diagnosis and treatment of cancer and other diseases play a huge role. This review summarizes the progress in the application of pyrosequencing - based genetic mutation detection in molecular targeted individualized therapy and disease diagnosis.