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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adaptor Proteins, Signal Transducing
-
Carrier Proteins
-
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
-
Colorectal Neoplasms, Hereditary Nonpolyposis / prevention & control
-
DNA Mutational Analysis / instrumentation
-
DNA Mutational Analysis / methods*
-
Electrophoresis, Gel, Two-Dimensional / instrumentation
-
Electrophoresis, Gel, Two-Dimensional / methods*
-
Equipment Design
-
Humans
-
MutL Protein Homolog 1
-
Neoplasm Proteins / genetics*
-
Nuclear Proteins
-
Polymerase Chain Reaction / instrumentation
-
Polymerase Chain Reaction / methods*
Substances
-
Adaptor Proteins, Signal Transducing
-
Carrier Proteins
-
MLH1 protein, human
-
Neoplasm Proteins
-
Nuclear Proteins
-
MutL Protein Homolog 1