【摘要】 目的探讨基于条形码磁珠技术的液相芯片检测地贫基因的准确性、稳定性、实验操作优势和临床应用前景。方法收集150份已知不同地贫基因型和地贫阴性血液标本,采用基于条形码磁珠技术的液相芯片进行地贫基因检测;另外采用液相芯片和现有临床地贫基因检测试剂盒两种方法同时检测1 015份血液标本,并比较两种方法检测结果。结果 150份血液标本的液相芯片检测结果和已知基因型完全一致。1 015份临床标本检测结果为地贫阴性520例,地贫阳性495例。495例地贫阳性标本中α地贫236例,占总阳性标本的47.7%;β地贫223例,占总阳性标本的45.1%;α地贫复合β地贫标本36例,占总阳性标本的7.3%。液相芯片和现有临床基因检测试剂盒两种方法检测的结果完全一致。结论基于条形码磁珠技术的液相芯片进行地贫基因检测具有高通量、准确、稳定、检测时间短和操作简捷等优点,有广泛的临床应用前景,适用于大样本量的实验室检测。更多还原

【Abstract】 Objective To investigate the performance, experimental operating advantages and clinical application prospect of a suspension array based on barcoded magnetic beads in thalassemia gene detection. Methods 150 specimens including different thalassemia genotypes and wild-type specimens were collected. Their thalassemia gene mutations were detected by the suspension array. A contrast experiment study of the suspension array and the current clinical thalassemia gene detection kit was performed with detecting the thalassemia gene mutations of 1 015 specimens by the two methods. Results The thalassemia gene detection results of the 150 specimens detected by the suspension array were the same as the known genotype. The thalassemia genotypes of the 1 015 specimens were : 520 specimens were wild-type and 495 specimens were positive of thalassemia gene mutation. In 495 positive specimens, 236(47.7%) specimens were α-thalassemia, 223(45.1%) specimens were β-thalassemia and 36(7.3%) specimens were α-thalassemia combined with β-thalassemia. The contrast experiment results of the suspension array and the current clinical thalassemia gene detection kit were the same. Conclusion The suspension array based on BMB can detect thalassemia gene mutations with the advantages of high throughput, accurate, stable, short detection time and simple operation. It has broad clinical application prospect and is especially suitable for a large number of specimen detection.更多还原