血浆游离DNA检测临床意义的研究进展

The clinical value of plasma cell-free DNA

血浆游离DNA(cell-free DNA,cfDNA)作为一种新型无创分子检测标志物,在疾病早期诊断、预后评估、疗效监测等方面具有潜在价值。目前检测cfDNA的方法包括单链构象多态性分析聚合酶链反应(polymerase chain reaction,PCR)法、限制性片段长度多态性PCR法、测序分析和数字PCR等,不同的方法可以分别对cfDNA存在的未知突变进行筛查,对其基因行遗传多态性分析,还能用于已知突变分析等。cfDNA可以应用于恶性肿瘤、产前筛查、心血管疾病、移植医学等多种疾病领域的早期筛查和病情评估。本文主要对cfDNA在不同疾病领域的检测意义进行阐述。

As a new noninvasive molecular biomarker, plasma cell-free DNA (cfDNA) has potential value in early diagnosis, prognosis evaluation, therapeutic monitoring. Now lots of methods can be used to detect cfDNA including SSCP-PCR, RFLP-PCR, sequencing, and digital PCR. Different methods could be applied in screening of unknown mutations, analysis of genetic polymorphism, and anlysis of specific mutations. cfDNA can be applied in early screening and evaluation in cancers, prenatal test, cardiovascular diseases, and transplantation. This manuscript reviewed the detective value of cfDNA on different diseases.