Applications of capillary electrophoresis in DNA mutation analysis of genetic disorders
Applications of capillary electrophoresis in DNA mutation analysis of genetic disorders
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DOI：
10.1136/mp.50.5.261
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发表时间：
1997-10-01
期刊：
影响因子：
--
通讯作者：
Trent, RJ
中科院分区：
文献类型：
--
作者：
Le, H;Fung, D;Trent, RJ
Aim-To facilitate DNA mutation analysis by using Capillary Electrophoresis. Methods-The useful and applications of Capillary Electrophoresis in DNA fragment sizing and sequencing were evaluated. Results-DNA mutation testing in disorders such as cystic fibrosis，亨廷顿病，α地中海贫血，and hereditary fructose intolerance were undertaken effectively.然而，当使用毛细管电泳时，在亨廷顿病的情况下重复测定（GAG）的大小是一个潜在的问题。用于毛细管电泳的分离聚合物仍处于发展阶段，改进的定期releasedregular. Conclusions，在DNA诊断设置，毛细管电泳是一个有价值的发展，因为它扩大了自动化的范围，并具有有用的分析性能。在一次电泳运行中进行复杂多重化的潜力促进了DNA诊断。与常规凝胶电泳相比，毛细管电泳中DNA片段的迁移率不同，在某些情况下，在解释或报告结果时需要额外注意。毛细管电泳是一种廉价的替代组合自动测序和片段分析，利用多色荧光能力。然而，以其目前的形式，它对于大规模测序是无用的。
Aim-To facilitate DNA mutation analysis by use of capillary electrophoresis.Methods-The usefulness and applications of capillary electrophoresis in DNA fragment sizing and sequencing were evaluated.Results-DNA mutation testing in disorders such as cystic fibrosis, Huntington disease, alpha thalassaemia, and hereditary fructose intolerance were undertaken effectively. However, sizing the (GAG), repeat in the case of Huntington disease was a potential problem when using capillary electrophoresis. Separation polymers used in capillary electrophoresis are still in the developmental phase, with improved ones being released regularly.Conclusions-In the DNA diagnostic setting, capillary electrophoresis is a valuable development because it expands the scope for automation and has useful analytical properties. The potential to perform complex multiplexing within one electrophoresis run facilitates DNA diagnosis. The different mobility of DNA fragments in capillary electrophoresis compared with conventional gel electrophoresis will require, in some circumstances, additional care when results are being interpreted or reported. Capillary electrophoresis is a cheap alternative for combined automated sequencing and fragment analysis that utilises multicolour fluorescence capability. However, in its present form, it is not useful for large scale sequencing.