title: A simple system for automated two-dimensional electrophoresis: applications to genetic testing.
abstract: Two-dimensional gene scanning (TDGS) is a method for mutation detection based on two-dimensional electrophoretic separation of PCR-amplified DNA fragments according to size and base pair sequence. To facilitate two-dimensional electrophoresis without manual interference, a simple three-chamber unit was designed on top of an existing vertical electrophoresis instrument. Application of this system to genetic testing is demonstrated by the performance of a complete two-dimensional mutational scanning assay of one of the hereditary nonpolyposis colon cancer syndrome susceptibility genes, hMLH1.
authors.affiliation: Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA.
authors.forename: R K
authors.initials: RK
authors.lastname: Dhanda
authors.forename: W M
authors.initials: WM
authors.lastname: Smith
authors.forename: C B
authors.initials: CB
authors.lastname: Scott
authors.forename: C
authors.initials: C
authors.lastname: Eng
authors.forename: J
authors.initials: J
authors.lastname: Vijg
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000517:prevention & control; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods*; D015180:Electrophoresis, Gel, Two-Dimensional / Q000295:instrumentation / Q000379:methods*; D004867:Equipment Design; D006801:Humans; D000070957:MutL Protein Homolog 1; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction / Q000295:instrumentation / Q000379:methods*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D000070957:MutL Protein Homolog 1