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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。
OBJECTIVE: To study the accuracy, stability, advantage of experimental operation and foreground of clinical application of liquid chip for detecting thalassemia gene based on barcode magnetic bead technology. Methods 150 samples of thalassemia and thalassemia were collected, and the thalassemia gene was detected by liquid-phase chip based on bar-coded magnetic bead technology. In addition, the liquid-phase chip and the existing clinical thalassemia gene detection kit two Method of simultaneous detection of 1 015 blood samples, and compare the two methods test results. Results The blood chip results of 150 blood samples were completely consistent with the known genotypes. The results of 1 015 clinical samples showed thalassemia negative in 520 cases and thalassemia positive in 495 cases. Among 495 anemia-positive samples, 236 cases were α-thalassemia, accounting for 47.7% of the total positive samples; 223 cases of β-thalassemia, accounting for 45.1% of the total positive samples; 36 cases of α-thalassemia β-thalassemia samples, Of 7.3%. Liquid-phase chip and the existing clinical gene test kit test results of two methods exactly the same. Conclusion The liquid chip based on barcode magnetic bead technology has the advantages of high throughput, accuracy, stability, short detection time and simple operation. It has broad clinical application prospects and is suitable for large sample size laboratory testing.