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血浆 DNA 医学研究与临床应用的进展。

Advances in the medical research and clinical applications on the plasma DNA.

机构信息

1 Department of Hematology, The first Affiliated Hospital of Harbin Medical University, Harbin 150001, China ; 2 Western Sydney Genomic Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW, Australia.

出版信息

Transl Pediatr. 2014 Apr;3(2):140-8. doi: 10.3978/j.issn.2224-4336.2014.03.07.

Abstract

Plasma DNA has had a strong impact and influence on basic medical research and clinical practice since the discovery of low levels of plasma DNA in healthy individuals under different physiological conditions. Although the source of circulating DNA still requires further investigation, a wide range of research has also proven the value of qualitative and quantitative measurements of plasma DNA in many disease conditions. The use of plasma DNA has a biomarker is advantageous due to accessibility, reliability, reproducibility, sensitivity, specific and relatively low cost. Recently, the detection of circulating (plasma) DNA quantitative changes have been using in the studies on the tumor gene mutations and to monitor disease progressing and to predict the disease prognosis. Such technique also has been using other many different fields, particularly in prenatal diagnosis, for which plasma DNA testing is preferable due to non-invasiveness. This article reviews the research progression and clinical applications of plasma DNA in the last several years.

摘要

血浆 DNA 自被发现于健康个体在不同生理条件下存在低水平的血浆 DNA 以来,对基础医学研究和临床实践产生了强烈的影响和冲击。虽然循环 DNA 的来源仍需进一步研究,但广泛的研究也证明了定量和定性测量血浆 DNA 在许多疾病情况下的价值。由于其易于获取、可靠性、可重复性、灵敏度、特异性和相对较低的成本,使用血浆 DNA 作为生物标志物具有优势。最近,循环(血浆)DNA 定量变化的检测已被用于肿瘤基因突变的研究,以监测疾病进展并预测疾病预后。该技术还被用于许多其他不同领域,特别是在产前诊断中,由于其非侵入性,血浆 DNA 检测更受欢迎。本文综述了近年来血浆 DNA 的研究进展及其在临床中的应用。

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