多色探针熔解曲线法应用于别嘌呤醇不良反应相关基因HLA-B* 58∶01的检测

Rapid detection of HLA-B* 58∶01 gene based on multiplex melting curve analysis for the monitoring of adverse drug reaction caused by allopurinol

目的评价多色探针熔解曲线法（MMCA）在别嘌呤醇不良反应相关的HLA-B＊ 58∶01基因检测中的应用。方法收集1147（人）份厦门地区无偿献血者的外周静脉血标本,提取全基因组DNA后,按双盲对照试验,分别应用HLA序列分型（HLA-SBT）测序法和MMCA法检测各标本的HLA-B＊ 58∶01基因,比较2种检测方法的符合率。结果采用HLA-SBT测序法与MMCA法在1 147人份献血者标本中检出的HLA-B＊ 58∶01阳性及阴性标本均相同,分别为213和934例,符合率为100%（1 147/1 147）;本组厦门地区献血人群的HLA-B＊ 58∶01携带率为18.57%（213/1147）。结论 MMCA法用于HLA-B＊ 58∶01基因检测简便、快速、灵敏度高、特异性强。

Objective Evaluation of the HLA-B＊ 58∶01 gene detection based on multiplex melting curve analysis（MMCA） for the monitoring of adverse drug reaction caused by allopurinol. Methods We collected 1147 peripheral blood samples from donators in Xiamen City. DNA was extracted from the samples and a blind test was then performed to validate the consistency between human leukocyte antigens sequence-based typing（HLA-SBT） assay and MMCA assay for HLA-B＊ 58∶01 gene. Results In this study,213 cases were identified positive and 934 were negative by HLA-SBT assay and MMCA assay. The overall agreement between HLA-SBT assay and MMCA assay is 100%（1147/1147） for HLA-B＊ 58∶01 gene detection. The percentage of positive samples was 18. 57 %（213/1 147）. Conclusion MMCA assay is a convenient and quick method with high sensitivity and excellent specificity and thus promises a powerful tool for the clinical diagnosis of HLA-B＊ 58∶01 gene.