title: Diagnosis of Duchenne/Becker muscular dystrophy and quantitative identification of carrier status by use of entangled solution capillary electrophoresis.
abstract: 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.
authors.affiliation: Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine 19104-4318, USA. fortina@mail.med.upenn.edu
authors.forename: P
authors.initials: P
authors.lastname: Fortina
authors.forename: J
authors.initials: J
authors.lastname: Cheng
authors.forename: M A
authors.initials: MA
authors.lastname: Shoffner
authors.forename: S
authors.initials: S
authors.lastname: Surrey
authors.forename: W M
authors.initials: WM
authors.lastname: Hitchcock
authors.forename: L J
authors.initials: LJ
authors.lastname: Kricka
authors.forename: P
authors.initials: P
authors.lastname: Wilding
mesh_terms: D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014960:X Chromosome