A novel multiplex polymerase chain reaction assay for detection of both HLA-A*31:01/HLA-B*15:02 alleles, which confer susceptibility to carbamazepine-induced severe cutaneous adverse reactions

作者：Nguyen D V^*; Vidal C; Chi H C; Do N T Q; Fulton R; Li J; Fernando S L

来源：HLA, 2017, 90(6): 335-342.

DOI：10.1111/tan.13143

• carbamazepine
• drug rash with eosinophilia and systemic symptoms
• real-time PCR
• severe cutaneous adverse reactions
• Stevens-Johnson Syndrome
• TaqMan Probe

HLA-A*31:01 and HLA-B*15:02 have been widely reported to confer genetic susceptibility to carbamazepine (CBZ)-induced severe cutaneous adverse reactions (SCARs). Accordingly, the screening for these alleles has been highly recommended to prevent SCAR prior to introducing CBZ therapy. Although a number of methods are available for screening of HLA-A*31:01 or HLA-B*15:02 alleles separately, developing an assay that can detect both these alleles would be more clinically practical, cost-effective and less time-consuming. Therefore, in this study, a multiplex polymerase chain reaction (PCR) using TaqMan Probe was designed and validated to be able to detect HLA-A*31:01 and HLA-B*15:02. In comparison with Luminex-SSO/SBT/SSB, the multiplex PCR assay for detection of HLA-A*31:01 and HLA-B*15:02 had a perfect agreement in the validation group of 125 samples. The method was able to detect the target genes at the DNA concentration of 0.037 ng/mu L. The unit cost of this assay is less than $5 USD with total time of 110 minutes.

• 出版日期2017-12