DNA mutation detection via fluorescence imaging in a spatial thermal gradient, capillary electrophoresis system

To improve the speed and efficiency of genetic screening, we are developing an instrument to detect mutations via a high throughput, automated system. Detection is based on changes in the melting temperature induced by single point mutations as in denaturing gradient gel electrophoresis. This instrument measures the migrating position of test and wild-type molecules in a spatial thermal gradient during capillary electrophoresis. In this work, the concept is described. Important aspects of the design of the instrument are discussed focusing on controlling thermal expansion, creating a stable, predictable temperature gradient, and optimizing software and hardware. Finally, the concept is proved in an example experiment successfully identifying the presence of a mutation in the test sample.