单核苷酸多态性
银屑病
个性化医疗
药物基因组学
金标准(测试)
可追溯性
人口
DNA测序
计算生物学
医学
计算机科学
生物
遗传学
DNA
内科学
免疫学
基因
基因型
环境卫生
软件工程
作者
Alessandra Marsella,Paola Valentini,Paolo Tarantino,Maurizio Congedo,Pier Paolo Pompa
摘要
We report a simple, rapid and low-cost test, based on gold nanoparticles, for the naked-eye colorimetric detection of a signature of single nucleotide polymorphisms (SNPs) relevant for the personalized medicine of psoriasis patients. We validated the colorimetric assay on real-world DNA samples from a cohort of 30 psoriasis patients and we compared the results, in double-blind, with those obtained with two state-of-the-art instrumental techniques, namely reverse dot blotting and direct sequencing, finding 100% agreement. We demonstrated high accuracy, sensitivity and specificity of the colorimetric test that can be easily adapted for the genotypization of different SNPs, important for the pharmacogenomics of various diseases, and in other fields, such as food traceability and population structure analysis.
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