Clinical Evaluation of Multicolor Melting Curve Analysis for Detecting Gene Related to Carbamazepine-induced Adverse Drug Reactions

OBJECTIVE To evaluate the effect of multicolor melting curve analysis (MMCA) for detecting HLA-B^*15:02 gene related to carbamazepine-induced adverse drug reactions.METHODS A blind test of 1 147 peripheral blood samples collected from Xiamen Blood Center was performed to validate the agreement between MMCA assay and HLA-SBT assay. Sanger sequencing and electrophoresis were used to confirm inconsistent results of two methods,the agreement for all methods was validated.RESULTS In this study,77 cases were identified as positive samples and 1 070 cases were identified as negative samples by MMCA assay.For HLA-SBT assay,74 HLA-B^*15:02 positive samples,1 070 negative samples and 3 uncertain samples (only showed B^*15:VG-B^*15:CYS) were detected.Three uncertain samples were confiremed to be HLA-B^*15:02 positive samples by Sanger sequencing and electrophoresis.Therefore,the positive agreement,negative agreement and total agreement of HLA-B^*15:02 gene detection by MMCA assay were 100%(77/77),100%(1 070/1 070) and 100% (1 147/1 147).The percentage of positive samples was 6.7%(77/1 147) which was reasonable compared to previous reports. CONCLUSION MMCA assay is a convenient and rapid method with high sensitivity and excellent specificity,and promises to be a powerful tool for the clinical diagnosis of HLA-B^*15:02 gene.