Cai S P, Kan Y W
Department of Laboratory Medicine, University of California, San Francisco 94143-0724.
J Clin Invest. 1990 Feb;85(2):550-3. doi: 10.1172/JCI114471.
We used denaturing gradient gel electrophoresis to detect the beta-thalassemia mutations in the Chinese population. By amplifying the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known mutations on the basis of the mobility of the homoduplexes and heteroduplexes. We conclude that denaturing gradient gel electrophoresis offers a nonradioactive means of detecting multiple mutations in genetic disorders.
我们使用变性梯度凝胶电泳来检测中国人群中的β-地中海贫血突变。通过将β-珠蛋白基因扩增为四个独立片段,并在两块凝胶中对扩增后的DNA进行电泳,我们能够根据同型双链体和异型双链体的迁移率区分所有12种已知突变。我们得出结论,变性梯度凝胶电泳提供了一种检测遗传疾病中多种突变的非放射性方法。