http://biochem.otago.ac.nz/speaker-calendar/ http://biochem.otago.ac.nz/speaker-calendar/cnv-and-me/view/2012-06-19 <p>Until relatively recently, single nucleotide polymorphisms (SNPs) were considered to be the major source of genetic variation in humans (and other animals). With the advent of whole‐genome sequencing and DNA microarray technology, it is now known that duplications and deletions of entire genes and gene regions are another common source of genetic variation. The first papers reporting large-scale copy number variation (CNV) were published in 2005, and since then an increasing number of studies showing association between CNV and disease susceptibility have been published. However there are significant technical and analytic problems with single-gene studies, and many initial associations have not been replicated. Over the last few years my work has focussed on CNV in two immune-system genes, the pro-inflammatory chemokine CCL3L1 and the leukocyte receptor FcgR3B, both of which influence susceptibility to rheumatoid arthritis in several different Caucasian populations.  In this talk I will discuss CNV at these loci, and address some of the challenges facing research in this area.</p> Tue, 17 Apr 2012 10:48:02 +1200 http://biochem.otago.ac.nz/speaker-calendar/cnv-and-me/view/2012-06-19