Fortina P, Cheng J, Shoffner M A, Surrey S, Hitchcock W M, Kricka L J, Wilding P
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine 19104-4318, USA.
Clin Chem. 1997 May;43(5):745-51.
Use of capillary electrophoresis, a new and useful analytical tool, offers a variety of advantages for nucleic acid analyses, including rapid analysis, automation, high resolution, qualitative and quantitative results, and low consumption of both sample and reagents. We report the first example of the use of entangled solution capillary electrophoresis (ESCE) and laser-induced fluorescence detection (LIF) for separation-based diagnostics in the quantitative analysis of multiplex PCR products for determination of carrier status of Duchenne/ Becker muscular dystrophy (DMD/BMD). This approach greatly improved the speed, resolution, and sensitivity of information needed for the diagnosis of DMD/BMD compared with that from conventional diagnostic methods, and is of general utility for diagnosis of genetic diseases.
使用毛细管电泳这一新型实用分析工具，在核酸分析方面具有诸多优势，包括分析速度快、可自动化、分辨率高、能得出定性和定量结果以及样品和试剂消耗低等。我们报告了首例将缠结溶液毛细管电泳（ESCE）和激光诱导荧光检测（LIF）用于基于分离的诊断，对多重聚合酶链反应（PCR）产物进行定量分析，以确定杜氏/贝克型肌营养不良症（DMD/BMD）携带者状态。与传统诊断方法相比，该方法极大地提高了DMD/BMD诊断所需信息的速度、分辨率和灵敏度，并且在遗传疾病诊断中具有普遍实用性。
