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Genotyping of Short Insertion-Deletion Polymorphisms (June 1998)ORNL researchers in the Life Sciences Division are collaborating with Dr. James Weber at the Marshfield Clinic in Wisconsin, to develop genosensor-based genotyping of thousands of DNA markers across the human genome. This capability is expected to greatly facilitate the discovery of genes associated with genetic diseases such as diabetes, hypertension and schizophrenia. The focus is initially on short insertion-deletion polymorphisms, of which there are estimated to be about 150,000 in the human genome. Dr. Weber has provided sequence information and fluorescent PCR products for a number of known short insertion-deletion polymorphisms. ORNL researchers have prepared genosensor chips containing oligonucleotide probes representing both alleles of each of these model DNA markers, and have hybridized the labeled fragments to the genosensor. Recently these researchers have demonstrated the ability of the genosensor chips to correctly identify the known alleles for these model DNA markers, and they are now in the process of expanding the panel of markers represented on the chip to analyze approximately 100 human short insertion-deletion polymorphisms identified by Dr. Weber. This work is leading towards establishment of a technology resource for whole human genome polymorphism screens, involving simultaneous analysis of at least 1,200 markers using the ORNL genosensor system. |
Oak Ridge National Laboratory is operated by UT-Battelle, LLC,
under contract DE-AC05-00OR22725 for the U.S. Department of Energy.