游离DNA检测技术及其在疾病诊疗中的应用和研究进展

Application and research progress of cell-free DNA in the diagnosis and treatment of related disease

游离DNA(cfDNA)是存在于人体细胞外液中的DNA片段,在生理或病理条件下(如妊娠、肿瘤等),cfDNA的含量变化和分子特征等使其成为疾病诊疗的生物标志物之一。随着cfDNA富集技术以及测序、质谱等检测技术的发展,cfDNA的检测已形成完整的检验流程。基于cfDNA检测的液体活检技术在临床肿瘤诊疗、产前检查中已得到广泛应用,并且在自身免疫病诊疗中展现出较大的潜力。本综述描述了cfDNA检测技术的发展和液体活检在临床方面的应用,以及cfDNA在疾病诊断和治疗中的研究进展。

Cell-free DNA(cfDNA)is the DNA fragment existing in human extracellular fluid.In specific physiological process(such as pregnancy)or pathological conditions(such as human malignancies),the contents of cfDNA in extracellular fluid will abnormally change.The contents and molecular characteristics of cfDNA make it have the potential as a kind of biomarker for diseases′diagnosis.With the development of cfDNA detection technology such as sequencing and mass spectrometry,liquid biopsy based on cfDNA detection has been widely used in clinical tumor diagnosis,tumor treatment,prenatal examination,and research in autoimmune diseases.A systematic summary of the latest research progress in the development of cfDNA detection technology and the clinical application of liquid biopsy,as well as the research progress of cfDNA in the diagnosis and treatment of related diseases is summarized in this review.