Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Bio-X Institutes, Shanghai Jiao Tong University, Shanghai 200030, China.
Nat Nanotechnol. 2011 Sep 4;6(10):639-44. doi: 10.1038/nnano.2011.141.
Completion of the Human Genome Project and the HapMap Project has led to increasing demands for mapping complex traits in humans to understand the aetiology of diseases. Identifying variations in the DNA sequence, which affect how we develop disease and respond to pathogens and drugs, is important for this purpose, but it is difficult to identify these variations in large sample sets. Here we show that through a combination of capillary sequencing and polymerase chain reaction assisted by gold nanoparticles, it is possible to identify several DNA variations that are associated with age-related macular degeneration and psoriasis on significant regions of human genomic DNA. Our method is accurate and promising for large-scale and high-throughput genetic analysis of susceptibility towards disease and drug resistance.
人类基因组计划和人类单倍型图计划的完成，导致了对人类复杂特征进行定位以了解疾病病因的需求日益增长。为了达到这一目的，确定影响我们罹患疾病以及对病原体和药物产生反应的 DNA 序列变异非常重要，但在大样本集中识别这些变异非常困难。在这里，我们通过毛细管测序和金纳米粒子辅助的聚合酶链反应的组合，证明可以在人类基因组的重要区域鉴定出几种与年龄相关性黄斑变性和银屑病相关的 DNA 变异。我们的方法对于针对疾病易感性和药物抗性的大规模高通量遗传分析是准确且有前景的。
