Qin Wei Jie, Yung Lin Yue Lanry
Department of Chemical and Biomolecular Engineering, National University of Singapore, 10 Kent Ridge Crescent, Singapore 119260, Singapore.
Biosens Bioelectron. 2009 Oct 15;25(2):313-9. doi: 10.1016/j.bios.2009.07.013. Epub 2009 Jul 17.
The identification of single nucleotide mutations with specific disease and single nucleotide polymorphisms (SNPs) among individuals is increasingly important for diagnosis of genetic disease, prediction of disease resistance or predispositions, as well as administration of drug dosages and design of personalized medicine. In this study, we demonstrated a convenient yet useful colorimetric quantitative DNA assay method with high single nucleotide discrimination for both center and end-mismatched sequences. The detection limit of our method is 75 fmol of DNA sample. Even for mixed DNA sample with low percentages of matched targets, this method shows good probe selectivity and zero false positive detection. Finally, the ease of operation and compatibility with existing molecular biology toolbox makes this method a potential low-cost alternative in scientific and clinical diagnostic application.
识别与特定疾病相关的单核苷酸突变以及个体间的单核苷酸多态性（SNP）对于遗传疾病的诊断、疾病抗性或易感性的预测，以及药物剂量的管理和个性化医疗的设计越来越重要。在本研究中，我们展示了一种简便而有用的比色法定量DNA检测方法，该方法对中心和末端错配序列都具有高单核苷酸区分能力。我们方法的检测限为75 fmol的DNA样品。即使对于匹配靶标比例较低的混合DNA样品，该方法也显示出良好的探针选择性和零假阳性检测结果。最后，操作简便以及与现有分子生物学工具的兼容性使得该方法成为科学和临床诊断应用中潜在的低成本替代方法。
