摘要
循环游离DNA (cfDNA)作为一种非侵入性疾病生物标记物,已成为一个有吸引力的研究课题。cfDNA目前可以在人体不同体液中(血液、尿液、唾液等)检测到。目前通过“下一代”测序(NGS)方法以及聚合酶链式反应(PCR)和NGS的组合,靶向深度测序已被用于同时识别多个基因中的特定基因组区域或新的体细胞变体。新分子技术的快速发展促进了cfDNA的研究和鉴定,为临床相关疾病的检测、临床决策和疾病的预后提供新的方法。目前,cfDNA可以应用于恶性肿瘤、产前筛查、心血管疾病、移植医学、自身免疫性疾病、寄生虫病等多种疾病领域的早期筛查和病情评估、监测等临床应用。本文就cfDNA的生物学特性及其在临床疾病中的应用作一综述,以期为临床疾病的诊治提供新的视角。
Circulating free DNA (cfDNA), as a non-invasive disease biomarker, has become an attractive research topic. cfDNA can be detected in different body fluids (blood, urine, saliva, etc.). Currently, targeted deep sequencing has been used to simultaneously identify specific genomic regions or novel somatic variants in multiple genes through “next generation” sequencing (NGS) methods and a combination of polymerase chain reaction (PCR) and NGS. The rapid development of new molecular technologies has promoted the study and identification of cfDNA, providing new methods for the detection, clinical decision-making and prognosis of clinically relevant diseases. At present, cfDNA can be applied to clinical applications such as early screening, disease evaluation and monitoring in the fields of malignant tumors, prenatal screening, cardiovascular diseases, transplantation medicine, autoimmune diseases, parasitic diseases and other diseases. This paper reviews the biological characteristics of cfDNA and its application in clinical diseases, in order to provide a new perspective for the diagnosis and treatment of clinical diseases.
出处
《临床医学进展》
2022年第2期1446-1454,共9页
Advances in Clinical Medicine
