School of Life Sciences, Northwest University, Xi'an, Shaanxi, 710069, PR China.
National Engineering Research Center for Miniaturized Detection Systems, Xi'an 710069, PR China.
Pharmacogenomics. 2019 Jul;20(11):803-812. doi: 10.2217/pgs-2019-0052. Epub 2019 Aug 1.
is significantly associated with cutaneous adverse drug reactions caused by aromatic antiepileptic drugs. Here, we aimed to establish a fast and reliable detection method for genotyping. A single-tube multiplex quantitative real-time polymerase chain reaction (qPCR) assay for genotyping was established by combining allele-specific primers with TaqMan probes. A 100% concordance was observed between qPCR and SBT result in 106 Han subjects. The detection limit of the new method was 0.05 ng DNA. The positive rate of in Tibetans (55.6%, n = 81) was significantly higher than those in Han (34%, n = 106), Uighur (27.5%, n = 102), Bouyei (25.9%, n = 116) and Miao populations (26.5%, n = 113). The newly established qPCR assay was reliable for screening in clinical applications.
与芳香族抗癫痫药物引起的皮肤不良反应显著相关。在此,我们旨在建立一种快速可靠的基因分型检测方法。通过将等位基因特异性引物与 TaqMan 探针相结合,建立了一种用于基因分型的单管多重实时定量聚合酶链反应(qPCR)检测方法。在 106 例汉族受试者中,qPCR 与 SBT 结果的一致性为 100%。该方法的检测限为 0.05ng DNA。新方法在藏族人群中的阳性率(55.6%,n=81)明显高于汉族人群(34%,n=106)、维吾尔族人群(27.5%,n=102)、布依族人群(25.9%,n=116)和苗族人群(26.5%,n=113)。新建立的 qPCR 检测方法在临床应用中用于筛查是可靠的。