Zhang Tingting, Xiao Ying, Wang Yanxia, Li Yanwei, Zhang Lirong, Chen Chao, Wang Huijuan
School of Life Sciences, Northwest University, Xi'an, Shaanxi, 710069, PR China.
National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, PR China.
Pharmacogenomics. 2018 Jul 1;19(10):837-846. doi: 10.2217/pgs-2018-0050. Epub 2018 Jun 21.
HLA-A31:01 has been associated with carbamazepine-induced hypersensitivity reactions. HLA-A31:01 genetic testing is recommended before the initiation of carbamazepine therapy.
A novel real-time PCR assay was designed for HLA-A*31:01 detection by allele-specific primers and TaqMan minor groove binding probes.
The genotyping results in 100 subjects by the established method who were in 100% agreement with the sequencing-based typing method. The assay presents a sensitivity of 1 (95% CI: 0.69-1.00), a specificity of 1 (95% CI: 0.96-1.00) and a positive and negative predictive value of 1. The carrier rates of HLA-A*31:01 in Tibetan (n = 45), Han Chinese (n = 100), Miaos (n = 48) and Khalkhas (n = 48) were 22.2, 10, 4.2 and 18.8%, respectively.
This assay is reliable to detect HLA-A*31:01 and would be useful to prevent carbamazepine-induced hypersensitivity reactions.
HLA - A31:01与卡马西平引起的超敏反应相关。建议在开始卡马西平治疗前进行HLA - A31:01基因检测。
设计了一种新型实时聚合酶链反应检测方法，通过等位基因特异性引物和TaqMan小沟结合探针检测HLA - A*31:01。
用建立的方法对100名受试者进行基因分型，结果与基于测序的分型方法100%一致。该检测方法的灵敏度为1（95%置信区间：0.69 - 1.00），特异性为1（95%置信区间：0.96 - 1.00），阳性和阴性预测值均为1。藏族（n = 45）、汉族（n = 100）、苗族（n = 48）和柯尔克孜族（n = 48）中HLA - A*31:01的携带率分别为22.2%、10%、4.2%和18.8%。
该检测方法检测HLA - A*31:01可靠，对预防卡马西平引起的超敏反应有帮助。
