Objective: To proceed the clinical evaluation of DNA microarray for thalassemia gene detection.
Methods: Peripheral blood samples of 166 thalassemia gene test subjects were collected and tested for thalassemia genes by microarray chip method and Gap-PCR method combined with PCR-reverse dot blot hybridization method according to double-blind control test. The specificity, sensitivity, positive predictive value, negative predictive value, and total coincidence rate of the microarray chip method were evaluated. When the two methods were inconsistent, multiplex ligation dependent probe amplification (MLPA) was used to verify the deletional α-thalassemia.
Results: Compared with Gap-PCR method, specificity, sensitivity, positive predictive value, negative predictive value, Youden index, and total coincidence rate of microarray chip method was 100% (70/70), 96.88% (93/96), 100% (93/93), 95.89% (70/73), 0.969, and 97.59% (162/166), respectively, while compared with PCR-reverse dot blot hybridization method was 100% (125/125), 100% (41/41), 100% (41/41), 100% (125/125), 1, and 100% (166/166), respectively.
Conclusion: The microarray chip method for α-thalassemia gene detection shows the advantages of high specificity, sensitivity, and throughput.
题目: 微阵列芯片法在α-地中海贫血检测中的方法学评价.
目的: 对微阵列芯片法用于地中海贫血基因检测进行临床评价.
方法: 收集166份地中海贫血基因受检者的外周血样本，按照双盲对照试验，分别应用微阵列芯片法和Gap-PCR法联合PCR-反向点杂交法对各样本进行地中海贫血基因检测，评价微阵列芯片法的特异性、灵敏度、阳性预测值、阴性预测值及总符合率。两种方法不一致时，对于缺失型α-地中海贫血采用多重连接依赖探针扩增（MLPA）法进行验证.
结果: 微阵列芯片法与Gap-PCR法比较，特异性为100%（70/70），灵敏度为96.88%（93/96），阳性预测值为100%（93/93），阴性预测值为9589%（70/73），约登指数为0.969，总符合率为97.59%（162/166）；与PCR-反向点杂交法比较，其特异性为100%（125/125），灵敏度为100%（41/41），阳性预测值为100%（41/41），阴性预测值为100%（125/125），约登指数为1，总符合率为100%（166/166）.
结论: 微阵列芯片法用于α-地中海贫血基因检测具有特异性高、灵敏度高、高通量等优点.