Genomics & Pharmacogenomics

Biography

Biography: Huijuan Wang

Abstract

Aims: HLA-B*58:01 is strongly associated with allopurinol induced Severe Cutaneous Adverse Reactions (SCARs). Th e aim of this study was to develop a new, convenient and economical method for HLA-B*58:01 genotyping and to investigate the distribution of HLA-B*58:01 in diff erent Chinese populations. Methods: Combined with ARMS (Amplifi cation Refractory Mutation System) primers and TaqMan probe, a single-tube duplex real-time PCR assay for HLA-B*58:01 typing was established with ACTB as an internal control. Using this method, the prevalence of HLA-B*58:01 in 349 samples including 100 Northern Chinese Han, 100 Buyei, 99 Tibetan and 50 Uighur were determined. Th e reliability and specifi city was assessed by comparison of genotyping results in 100 Buyei samples with Sequence-Based Typing (SBT). Meanwhile, the linkage status of rs9263726 in PSORS1C2 with HLA-B*58:01 in four Chinese populations was analyzed. Results: Th e HLA-B*58:01 genotyping result in 100 Buyei samples by real-time PCR was in 100% concordance with SBT and the detecting limit of this assay was 50 pg. Th e frequency of the HLA-B*58:01 allele in Buyei minority (17%) was signifi cantly higher than that in Han (4%), Tibetan (5.1%) and Uighur (2%) populations (p<0.05). Th e complete linkage of HLA-B*58:01 with SNP rs9263726 previously reported in a Japanese population was not observed in the Chinese populations. Conclusion: Th e newly developed assay proves to be rapid, cost-eff ective and reliable for HLA-B*58:01 detection prior to allopurinol administration. Meanwhile, the rs9263726 could not be used as an alternative marker to HLA-B*58:01 in clinical diagnosis for allopurinol-induced SCAR especially in Chinese populations.