Akiyama Yoshitsugu, Wang Guoqing, Shiraishi Shota, Kanayama Naoki, Takarada Tohru, Maeda Mizuo
Bioengineering Laboratory RIKEN2-1 Hirosawa, Wako Saitama 351-0198 Japan; Faculty of Industrial Science and Technology Tokyo University of Science 102-1 Tomino, Oshamambe-cho, Yamakoshi-gun Hokkaido 049-3514 Japan.
Bioengineering Laboratory RIKEN 2-1 Hirosawa, Wako Saitama 351-0198 Japan.
ChemistryOpen. 2016 Nov 23;5(6):508-512. doi: 10.1002/open.201600110. eCollection 2016 Dec.
Involvement of single-nucleotide polymorphism (SNP) genotyping in healthcare should allow for more effective use of pharmacogenomics. However, user-friendly assays without the requirement of a special instrument still remain unavailable. This study describes naked-eye SNP discrimination in exon 5 of the human cytochrome P450 2C19 monooxygenase gene, (the wild-type allele) and (the variant allele with G681A point mutation). The present assay is composed of allele-specific single-base primer extension and salt-induced aggregation of DNA-modified gold nanoparticles (DNA-AuNPs). Genetic samples extracted from human hair roots are subjected to this assay. The results are verified by direct sequencing. This study should promise the prospective use of DNA-AuNPs in gene diagnosis.
单核苷酸多态性（SNP）基因分型应用于医疗保健应能更有效地利用药物基因组学。然而，仍缺乏无需特殊仪器的用户友好型检测方法。本研究描述了人细胞色素P450 2C19单加氧酶基因第5外显子中野生型等位基因和携带G681A点突变的变异等位基因的裸眼SNP鉴别。本检测方法由等位基因特异性单碱基引物延伸和盐诱导的DNA修饰金纳米颗粒（DNA-AuNPs）聚集组成。对从人发根提取的基因样本进行该检测。结果通过直接测序验证。本研究有望使DNA-AuNPs在基因诊断中得到前瞻性应用。
