Sharma Vaneet K, Vouros Paul, Glick James
Department of Chemistry and Chemical Biology, Barnett Institute, Northeastern University, Boston, Massachusetts 02115.
Int J Mass Spectrom. 2011 Jul;304(2-3):172-183. doi: 10.1016/j.ijms.2010.10.003.
In the past decade, cell free DNA, or circulating cell free DNA, or cell free circulating DNA, isolated from body fluids such as plasma/serum/urine has emerged as an important tool for clinical diagnostics. The molecular biology of circulating cell free DNA is poorly understood but there is currently an increased effort to understand the origin, mechanism of its circulation, and sensitive characterization for the development of diagnostic applications. There has been considerable progress towards these goals using real time polymerase chain reaction technique (rt-PCR). More recently, new attempts to incorporate mass spectrometric techniques to develop accurate and highly sensitive high-throughput clinical diagnostic tests have been reported. This review focuses on the methods to isolate circulating cell free DNA from body fluids, their quantitative analysis and mass spectrometry based characterization in evolving applications as prenatal and cancer diagnostic tools.
在过去十年中，从血浆/血清/尿液等体液中分离出的游离DNA，即循环游离DNA，已成为临床诊断的重要工具。目前人们对循环游离DNA的分子生物学了解甚少，但目前正在加大力度了解其来源、循环机制以及用于诊断应用开发的灵敏特性。使用实时聚合酶链反应技术（rt-PCR）在实现这些目标方面已取得了相当大的进展。最近，已有报道称尝试采用质谱技术开发准确且高度灵敏的高通量临床诊断测试。本综述重点关注从体液中分离循环游离DNA的方法、其定量分析以及在作为产前和癌症诊断工具的不断发展的应用中基于质谱的特性分析。
