title: The rapid analysis of dystrophin gene deletions shows variable electrophoretic mobility.
abstract: The introduction of PCR technology to the molecular diagnosis of genetic diseases has increased the speed and range of DNA tests available. Previous analyses of dystrophin gene mutations were time consuming, taking weeks to complete, and used radioisotopic methods. Further developments in DNA amplification and post-amplification techniques have made conventional tube PCR redundant. The rapid methodologies described enable the efficient screening of large populations for genetic disorders, although precautions must be taken when analysing the PCR products.
authors.affiliation: Department of Clinical Chemistry, Prince of Wales Hospital, Randwick, Australia.
authors.forename: B A
authors.initials: BA
authors.lastname: Neilan
authors.forename: D A
authors.initials: DA
authors.lastname: Leigh
authors.forename: B L
authors.initials: BL
authors.lastname: McDonald
mesh_terms: D003432:Cross-Linking Reagents; D004252:DNA Mutational Analysis / Q000379:methods; D016189:Dystrophin / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D004591:Electrophoresis, Polyacrylamide Gel; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D015203:Reproducibility of Results
chemical_list: D003432:Cross-Linking Reagents; D016189:Dystrophin