Summary:

Researchers at The Ohio State University have developed a method for the rapid and efficient identification of genetic alterations within large fragments of DNA (>3.2 Kb). Genetic alterations form the basis of many cancers and all inherited diseases. In cancer, there is growing evidence that identification of genetic mutations in the early stages of disease could lead to early interventional treatments that have a greater potential to reduce the morbidity and mortality caused by end-stage disease. This method describes a novel procedure to detect mutated DNA using chemical modifications that carry an easily detectable, antigenic marker. These components can be packaged into a molecular diagnosis kit resulting in rapid, efficient and sensitive detection of genetic mutations. Mutations can then be analyzed to determine the degree to which they are disease-related as well as providing a basic research tool for genetic studies. There is a clear need for the development of rapid, reliable, and sensitive methods for detecting point mutations in nucleic acids. It is anticipated that this technology will provide significant improvements to the interdisciplinary fields of mutation detection and genetic screening.

Potential Applications:

• Early detection and diagnosis of genetically linked diseases.
• Provides a basic research tool for the study of genetic mutations.

Advantages:

• It’s non-radioactive, utilizes no harsh or dangerous chemicals, is conducted within a single tube, is extremely rapid, screens tremendously large fragments of DNA and can easily be adapted to automated formats.
• This method allows for mutations to be identified and segregated from the overwhelming amounts of normal DNA.