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游离 DNA :分子诊断学的革命——迄今为止的历程。

Cell free DNA: revolution in molecular diagnostics - the journey so far.

机构信息

Department of Biochemistry, HIMSR, Mehrauli, New Delhi, India.

Department of Biochemistry, Maulana Azad Medical College, New Delhi 110002, India.

出版信息

Horm Mol Biol Clin Investig. 2020 Feb 14;41(1):/j/hmbci.2020.41.issue-1/hmbci-2019-0012/hmbci-2019-0012.xml. doi: 10.1515/hmbci-2019-0012.

Abstract

Cell free DNA (cf-DNA) refers to all non -ncapsulated DNA present in the blood stream which may originate from apoptotic cells as a part of the physiological cell turnover, or from cancer cells or fetal cells. Recent studies have highlighted the utility of cfDNA analysis for genetic profiling of cancer, non-invasive prenatal testing besides many other clinical applications. In our review we discuss the sources of cfDNA in the body, the techniques most commonly being used for its isolation and analysis, the applications of cfDNA testing and the associated pros-cons. We conclude that for prenatal testing, cfDNA analysis provides an effective, non-invasive and safer alternative to traditional amniocentesis and chorionic villus sampling tests. Also, in cancer patients, cfDNA analysis is useful for genetic profiling and follow-up during treatment. However, standardization of methods of isolation and analysis has become crucial for the success of widespread use of cfDNA analysis.

摘要

游离 DNA(cf-DNA)是指存在于血流中的所有非囊封 DNA,它可能来源于作为生理细胞更替一部分的凋亡细胞,也可能来源于癌细胞或胎儿细胞。最近的研究强调了 cfDNA 分析在癌症遗传分析、非侵入性产前检测以及许多其他临床应用中的作用。在我们的综述中,我们讨论了 cfDNA 在体内的来源、最常用于其分离和分析的技术、cfDNA 检测的应用以及相关的优缺点。我们得出结论,对于产前检测,cfDNA 分析为传统羊膜穿刺术和绒毛膜取样试验提供了一种有效、非侵入性和更安全的替代方法。此外,在癌症患者中,cfDNA 分析可用于遗传分析和治疗期间的随访。然而,为了广泛应用 cfDNA 分析的成功,分离和分析方法的标准化已经变得至关重要。

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