Assay for Quantitative Detection of Gene Defects

There is a significant need for a rapid, simple and quantitative assay for DNA sequences in the human genome so that the technology can be applied to a wide range of diagnostic applications. Current approaches are time consuming and require considerable technical skills and training on the part of the operator. The Homogeneous Gene Assay (HGA) coupled with Solid Phase Amplification (SPA) offers a very simple and reliable alternative where a tagged reporter molecule is displaced from a hybrid duplex with an anchored DNA strand by sample DNA. The specificity is conferred by the nucleotide sequence of the reporter/ anchor combination. All major complex steps in the process are completed in the production laboratory; therefore, the assay, as done in the diagnostic laboratory, requires only the addition of sample DNA to an assay vessel and incubation at a specific temperature for 1-3 hr. This simplicity in use should also lead to a significant reduction in cost over currently available technologies. The technology will first be applied to the analysis of alterations in gene copy numbers resulting from either genetic defects or cancer development.