High Throughput Mutation Screening by Automated Capillary Electrophoresis

Authors: Larsen L.A.; Christiansen M.; Vuust J.; Andersen P.S.

Source: Combinatorial Chemistry & High Throughput Screening, Volume 3, Number 5, October 2000 , pp. 393-409(17)

Publisher: Bentham Science Publishers

Abstract:

Molecular diagnosis of complex inherited disorders, population screening of genetic diseases, studies of the genetic basis of variable drug response (pharmacogenetics) as well as discovery and investigation of new drug targets (pharmacogenomics) involve screening for mutations in multiple DNA samples. Furthermore, the development of a third generation of the human genome map, based on single nucleotide polymorphisms (SNPs), requires screening for allelic variants through all of the three billion basepairs in the human genome. Thus, the need for high throughput mutation screening methods is great and is rapidly increasing. Traditional methods for mutation screening often involve slab-gel electrophoresis analyses which are laborious and difficult to automate. However, recent developments in capillary electrophoresis systems for DNA fragment analysis have made fully automated mutation screening possible and have dramatically increased the possible sample throughput. This review describes the recent advances in capillary electrophoresis of DNA and summarize the various methods for mutation screening based on this technique.

Keywords: Mutation Screening; Automated Capillary Electrophoresis; Single Nucleotide Polymorphisms (SNPs); DNA Microarray Technology; Microarray hybridization; DNA Sequencing; Constant Denaturing; Capillary Electrophoresis; Single-Strand Conformation Polymorphism Analysis; Dideoxy Fingerprinting; Heteroduplex Analysis; Short Tandem Repeats (STR); Capillary Array Electrophoresis; Ultra Fast Electrophoresis; Microfabricated Capillary Electrophoresis Chips; Amplification Refractory Mutation System; Denaturing Gradient Gel Electrophoresis; Entangled Solution Capillary Electrophoresis; Mutation Identification DNA Analysis System; Single Strand Conformation Polymorphism; Thermal Gradient Capillary Electrophoresis

Language: English

Document Type: Review article

DOI: http://dx.doi.org/10.2174/1386207003331508

Publication date: 2000-10-01

• Combinatorial Chemistry & High Throughput Screening publishes full length original research articles and reviews describing various topics in combinatorial chemistry (e.g. small molecules, peptide, nucleic acid or phage display libraries) and/or high throughput screening (e.g. developmental, practical or theoretical). Ancillary subjects of key importance, such as robotics and informatics, will also be covered by the journal. In these respective subject areas, Combinatorial Chemistry & High Throughput Screening is intended to function as the most comprehensive and up-to-date medium available. The journal should be of value to individuals engaged in the process of drug discoveryand development, in the settings of industry, academia or government.

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