Applications of capillary electrophoresis in DNA mutation analysis of genetic disorders

被引:19
作者
Le, H [1 ]
Fung, D [1 ]
Trent, RJ [1 ]
机构
[1] ROYAL PRINCE ALFRED HOSP,DEPT MOL & CLIN GENET,CAMPERDOWN,NSW 2050,AUSTRALIA
来源
JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY | 1997年 / 50卷 / 05期
关键词
capillary electrophoresis; DNA mutation analysis; automation;
D O I
10.1136/mp.50.5.261
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:261 / 265
页数:5
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