ZiFen Guo, CuiYing Peng, Kai Li, Duan Fang Liao
Individualized medicine requires not only the personalized treatment but also the individual genetic diagnosis. Technological progress may solve some restrains of existing molecular diagnostic assays, which will pave the ways to the clinical application of human genomic information as well as routine applications of mutation detection in addition to the traditional deoxyribonucleic acid (DNA) sequencing analysis. Therefore, the development of mutation detection technologies is still a contemporary urgent issue, particularly in individualized medicine. A simple, highly sensitive and accurate mutation detection technology is one of the area’s extremely competitive fields in the post-genome era. The mutation sensitive molecular on/off switch mediated by high-fidelity DNA polymerase, a highly reliable, simple, cheap, practical and suitable technology for high-throughput analysis, meets some of the new requirements. The mutation sensitive molecular switch is extensively suitable for automation and high throughput screening and promising in clinical genetic detection and mutation screening for many types of known single genetic diseases. When the mutation sensitive molecular switch is combined with DNA pooling, it can be used for etiology correlation analysis of multi-gene genetic diseases and epidemiological investigations of rare genetic mutations and polymorphisms. Furthermore, the mutation sensitive molecular switch mediated by high-fidelity DNA polymerases can also be combined with DNA microarray which may make individual genome sequencing quick, cheap and suitable for mutation load analysis.
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