芯片毛细管电泳检测平台的建立及其应用  

The building of chip-based capillary electrophoresis platform and application

作　　者：胡华[1,3] 熊强[2,3] 李彩霞[2,3] 高华方[3] 杨茜[2,3] 梁志清[1] 

机构地区：[1]第三军医大学西南医院妇产科,重庆400038 [2]清华大学医学系统生物学研究中心 [3]生物芯片北京国家工程研究中心

出　　处：《中华医学遗传学杂志》2007年第6期709-712,共4页Chinese Journal of Medical Genetics

摘　　要：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。Objective To detect the point mutations by chip-based capillary electrophoresis and to provide a rapid and sensitive technique detection for β-thalassemia. Methods Multiplex primer-extension reaction was used to amplify the common loci of the samples for β-thalassimia. 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 β-thalassemia by chip-based capillary electrophoresis, and the technology was ralidated by the patients＇ sampies and the results coincided with those of detection kit. Conclusion β-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.

关 键 词：基因检测 地中海贫血 遗传病 芯片毛细管电泳 

分 类 号：R686[医药卫生—骨科学]