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Clinical Chemistry 43: 745-751, 1997;
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(Clinical Chemistry. 1997;43:745-751.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis

Paolo Fortina1,a, Jing Cheng, Mann A. Shoffner, Saul Surrey1, Wendy M. Hitchcock2, Larry J. Kricka and Peter Wilding

1 Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA.

2 Department of Pathology and Clinical Laboratories, The Children's Hospital of Philadelphia.
a Address correspondence to this author, at: The Children's Hospital of Philadelphia, 310-C Abramson Pediatric Research Center, 34th St. and Civic Center Blvd., Philadelphia, PA 19104-4318. Fax 215-590-3660; e-mail fortina{at}mail.med.upenn.edu

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 ap-proach 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.


Key Words: indexing terms: polymerase chain reaction • heritable disorders • laser-induced fluorescence detection




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