芯片毛细管电泳检测平台的建立及其应用

目的采用芯片毛细管电泳检测基因点突变,为β-地中海贫血产前基因诊断提供一种快速、灵敏的检测技术。方法通过多重引物延伸反应扩增β-地中海贫血常见的突变位点,并采用芯片毛细管电泳双通道检测扩增产物,以辨别样品的基因型。结果建立了β-地中海贫血常见基因型的芯片毛细管电泳检测方法,对39例β-地中海贫血患者和5例产前诊断病例的检测结果符合试剂盒检测结果。结论芯片毛细管电泳检测β-地中海贫血具有快速、样品量少等优点,为产前遗传病的检测提供了一种新的技术手段。

The building of chip-based capillary electrophoresis platform and application

OBJECTIVE: To detect the point mutations by chip-based capillary electrophoresis and to provide a rapid and sensitive technique detection for beta-thalassemia. METHODS: Multiplex primer-extension reaction was used to amplify the common loci of the samples for beta-thalassemia. The reaction products were detected by the chip-based capillary electrophoresis and the genotypes of the samples were discrened. RESULTS: A system was constructed to detect the point mutations of beta-thalassemia by chip-based capillary electrophoresis, and the technology was ralidated by the patients' samples and the results coincided with those of detection kit. CONCLUSION: Beta-thalassemia can be detected by chip-based capillary electrophoresis rapidly with a small amount of samples. It would be a new detection method of the genetic disorders.