应用毛细管无胶筛分电泳诊断缺失型杜氏肌营养不良基因

Application of capillary non-gel seiving electrophoresis on gene diagnosis of deletion DMD

毛细管电泳是一项新兴的分离、分析技术，它以高效、快速、重复性好、自动化及微量等优点，在核酸分离分析的各方面均较以往的方法更具优势。本工作应用毛细管无胶筛分电泳与多重ＰＣＲ技术相结合对缺失型杜氏肌营养不良的病人进行了直接基因诊断。与传统方法相比，本技术在分离速度、分辨率及灵敏度方面均有较大改善。毛细管电泳技术将广泛用于遗传病基因诊断。

Capillary electrophoresis is a new analytical technique. It offes advantages for nucleic acid analyses, including high resolution, rapid analysis, good reproduction, automation and low consumption of sample. We report here the use of capillary non-gel seiving electrophoresis (CNGSE) for seperating multiples PCR products for direct gene diagnosis of deletion Duchenne muscular dystrophy(DMD). This approach greatly improved the speed, resollltion, and sensitivity for the diagnosis of DMD compared with conventional methods. Capillary electrophoresis must be general utility for diagnosis of genetic diseases.