Wyatt Alexander W, Ragge Nicola
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Mol Vis. 2009 Jul 28;15:1445-8.
Whole gene deletions or duplications are an important cause of genetic disease and phenotypic variation. Targeted techniques for the routine testing of gross rearrangements have become essential tools for diagnostic researchers with the search for the most cost-effective and efficient tool assuming high priority. We used the new selector technique, MLGA (multiplex ligation-dependent genome amplification), to confirm deletions in two genes, SOX2 (SRY [sex determining region Y]) box 2) and OTX2 (orthodenticle homeobox 2), in individuals with developmental eye disease. We conclude that MLGA has the potential to be a useful technique in diagnostic research for the identification of deletions or duplications of known genes due to its speed and relatively low cost.
全基因缺失或重复是遗传疾病和表型变异的重要原因。用于大规模重排常规检测的靶向技术已成为诊断研究人员的重要工具，寻找最具成本效益和效率的工具被置于高度优先地位。我们使用了新的选择技术——多重连接依赖基因组扩增（MLGA），来确认患有发育性眼病的个体中两个基因SOX2（SRY[性别决定区Y]盒2）和OTX2（正齿状同源盒2）的缺失。我们得出结论，由于其速度和相对较低的成本，MLGA有潜力成为诊断研究中用于识别已知基因缺失或重复的有用技术。
