Mutation analysis

Capillary electrophoresis analysis of PCR products of four common Norwegian BRCA1 muations (picture by Per Ekstrm)




We have previously been developing methods, including constant denaturant gel electrophoresis (CDGE), compiling and serving TP53 and CDKN2A (p16) mutation databases (the latter (Cyclin-dependent kinase inhibitor A) is listed as the one in the HUGO Locus Specific Database), as well as methods for the analysis of the specifically Norwegian BRCA1 mutations. A highlight of this work has been the
large scale screening of serum samples for BRCA1 and BRCA2 mutations in high-throughput mode. We have developed computing based methods for primer selection for CDCE related mutation detection methods, and are also starting to address general Norwegian DNA variation frequencies, in association with Per Olaf Ekstrøm and Pål Møller (see web page).
 
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