Le H, Fung D, Trent R J
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown NSW, Australia.
Mol Pathol. 1997 Oct;50(5):261-5. doi: 10.1136/mp.50.5.261.
To facilitate DNA mutation analysis by use of capillary electrophoresis.
The usefulness and applications of capillary electrophoresis in DNA fragment sizing and sequencing were evaluated.
DNA mutation testing in disorders such as cystic fibrosis, Huntington disease, alpha thalassaemia, and hereditary fructose intolerance were undertaken effectively. However, sizing the (CAG)n 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.
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.
通过毛细管电泳促进DNA突变分析。
评估毛细管电泳在DNA片段大小测定和测序中的实用性及应用。
有效地对囊性纤维化、亨廷顿病、α地中海贫血和遗传性果糖不耐受等疾病进行了DNA突变检测。然而，在使用毛细管电泳检测亨廷顿病时，对（CAG）n重复序列进行大小测定是一个潜在问题。毛细管电泳中使用的分离聚合物仍处于发展阶段，不断有改进的产品推出。
在DNA诊断领域，毛细管电泳是一项有价值的进展，因为它扩大了自动化范围并具有有用的分析特性。在一次电泳运行中进行复杂多重分析的潜力有助于DNA诊断。与传统凝胶电泳相比，毛细管电泳中DNA片段的迁移率不同，这在某些情况下，在解释或报告结果时需要格外小心。毛细管电泳是一种利用多色荧光能力进行组合自动测序和片段分析的廉价替代方法。然而，就其目前形式而言，它对大规模测序并无用处。
