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Capillary DNA Sequencer The Capillary DNA Sequencer is an automated laboratory system used for the analysis of deoxyribonucleic acid (DNA) to determine the genetic basis of different diseases.
Women who carry DNA changes or mutations in one of these genes have a lifetime risk of approximately 56 - 85% of developing breast or ovarian cancer compared to the approximately eleven percent population risk for the average Canadian woman. The sequencer is used in two ways. The first uses Multiplex Ligation-dependent Probe Amplification or MLPA. This test looks at multiple regions of the gene segment for abnormalities (deletions and duplications). There are normally two copies of each gene. Therefore a single copy of a gene indicates a deletion and the presence of three copies indicates a duplication. Approximately twenty percent of the disease-causing mutations in the BRCA1 and BRCA2 genes are caused by large deletions or duplications. The second test involves looking for single base changes. Each gene has a specific sequence of the four "letters" of the genetic code, A, C, G, and T. A change in this sequence or the deletion or duplication of one or a few of the letters can cause the gene to malfunction. Because the BRCA1 and BRCA2 genes are very large, the genes are first scanned by another technology to determine which area of the gene(s) are likely to contain disease-causing sequence changes. That region is then sequenced, letter by letter to look for the change. It is also important to realize that men who carry these genetic changes are also at high risk for a number of forms of cancer including breast and prostate cancer. In addition, first degree relatives of carriers are at 50% risk of carrying the same genetic change and can be tested proactively and monitored appropriately to catch cancers early and, in some cases, prevent cancer altogether. Currently more than 500 patients are referred to North York General Hospital's Molecular Genetics laboratory annually for testing for genetic changes in the BRCA1 and BRCA2 genes. While the first priority will always be for testing for breast cancer, the sequencing can be applied to the diagnosis of a number of genetic conditions including Prader-Willi syndrome/Angelman syndrome (disease caused by genetic changes on chromosome 15), DiGeorge/velocardiofacial syndrome (disease caused by deletions on chromosome 22), cystic fibrosis and many others. In addition, the Capillary DNA Sequencer can by used for other applications such as DNA fragment analysis which is used in the diagnosis of a large number of genetic conditions including Huntington disease, spinocerebellar ataxia and many others. Approximate cost: $212,500 If you are interested in joining the 2007 Heart of Fashion Event Planning Committee and having fun organizing this one-of-a-kind, award winning event, please contact Shelley Maynard, Special Events Manager at smaynard@nygh.on.ca or at 416-756-6708. |
