SpectruMedix 9610 Mutation Discovery System

University Of North Carolina Chapel Hill, Chapel Hill NC

Investigators

Abstract

DESCRIPTION (provided by applicant): The SpectruMedix SCE9610 Reveal Mutation Discovery Instrument System allows for 96 parallel analytical separations in a plate format for mutation detection and DNA polymorphism screening by lemporal gradient capillary electrophoresis (TGCE). At a temperature close to that of a variant amplicon melting temperature, the randomly reannealed combinations of homoduplexes and heteroduplexes can be separated. By comparing the electropherogram patterns of the wild-type control with experimental samples, sequence variation positives can be readily revealed. Compared with the currently used Denatured High Performance Liquid Chromatography (DHPLC) mutation detection technology, the SCE9610 offers distinctive advantages. First, unlike the DHPLC system, which is equipped with a single separation column that allows analysis of one sample at a time, separations on the SCE9610 occur simultaneously in individual capillaries. Each capillary is therefore the equivalent of a singlecolumn chromatography instrument. The SCE9610 uses one CCD detector to simultaneously record Fluorescencesignal from all capillaries with on-column laser excitation. This simple yet highly efficient optical design renders an extremely robust detection system. Most importantly, the SCE9610 configuration reduces the amount of time needed to analyze a 96-well microtiter dish from 16 hours for the current DHPLC system to less than two hours. Another limitation of the current DHPLC system is the need to establish specific temperatures for distinct types of mutations for optimal mutation detection sensitivity. The SCE9610 system circumvents this limitation by its capacity to perform sample analysis over a precisely controlled temperature gradient within a single run, eliminating the need for temperature optimization to maximize the detection sensitivity. The combination of massive multiplexing, high separation efficiency, fast analysis time, full automation and sensitive detection makes the SCE9610 a highly suitable analytical platform for high-throughput applications for many projects on the UNC-Chapel Hill campus.