Center for Biophysics and Computational Biology, University of Illinois at Urbana-Champaign, Urbana, Illinois 61801, United States.
Nano Lett. 2012 Jul 11;12(7):3861-6. doi: 10.1021/nl302069q. Epub 2012 Jun 18.
Many types of cancer and neurodegenerative diseases are caused by abnormalities and variations in the genome. We have designed a high-resolution imaging technique with high throughput and low cost for determining structural variations of genes related to genetic diseases. We initially mapped all seven nicking sites of Nb.BbvCI endonuclease enzyme on lambda DNA. Then we resolved densely labeled patterns of 107 nicking sites on human BAC DNA that is digested by Nb.BsmI and Nb.BbvCI endonuclease enzymes. This high density resulted in several dyes being closer together than the diffraction limit. Overall, detailed DNA nicking sites mapping with 100 bp resolution was achieved, which has the potential to reveal information about genetic variance and to facilitate medical diagnosis of several genetic diseases.
许多类型的癌症和神经退行性疾病是由基因组的异常和变异引起的。我们设计了一种高通量、低成本的高分辨率成像技术，用于确定与遗传疾病相关的基因的结构变异。我们首先在 lambda DNA 上绘制了 Nb.BbvCI 内切酶的所有七个切口位点。然后，我们解析了 Nb.BsmI 和 Nb.BbvCI 内切酶消化的人类 BAC DNA 上 107 个切口位点的密集标记模式。这种高密度导致几个染料比衍射极限更接近。总的来说，实现了具有 100bp 分辨率的详细 DNA 切口位点映射，这有可能揭示遗传变异信息，并有助于几种遗传疾病的医学诊断。
