Single-Tube Multiplex Real-Time Pcr Assay for Rapid and Reliable Detection of HLA-A31:01 Allele

• Published in: Pharmacogenomics Vol. 19; no. 10; pp. 837 - 846
• Main Authors: Zhang, Tingting, Xiao, Ying, Wang, Yanxia, Li, Yanwei, Zhang, Lirong, Chen, Chao, Wang, Huijuan
• Format: Journal Article
• Language: English
• Published: England Future Medicine Ltd 01.07.2018
• Subjects: Alleles; Asian Continental Ancestry Group - genetics; Carbamazepine; Carbamazepine - adverse effects; Carbamazepine - therapeutic use; Deoxyribonucleic acid; DNA; DNA Primers - genetics; Drug Hypersensitivity - blood; Drug Hypersensitivity - genetics; Ethnicity; Female; Genetic screening; Genetic Testing; Genotype; Genotyping; Histocompatibility antigen HLA; HLA-A Antigens - genetics; HLA-A Antigens - isolation & purification; Humans; Hypersensitivity; Male; Multiplex Polymerase Chain Reaction; Mutation; Polymerase chain reaction; Real-Time Polymerase Chain Reaction; Tissue typing; United States > US; China; HLA-A31:01; hypersensitivity reactions; carbamazepine
• ISSN: 1462-2416; 1744-8042; 1744-8042
• DOI: 10.2217/pgs-2018-0050

HLA-A*31:01 has been associated with carbamazepine-induced hypersensitivity reactions. HLA-A*31:01 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.