Use of Capillary Electrophoresis for High Throughput Screening in Biomedical Applications. A Minireview

摘要

Diagnosis of inherited diseases or cancer predispositions frequently involves determination ofnspecific mutations or polymorphisms. The number of characterized monogenetic and polygenetic diseasesnis significantly rising every year. As a result, an increasing number of patient samples with a risingncomplexity of genetic diseases require molecular diagnostics. In order to apply genetic analyses to largengroups of patients or population screening, automation of a sensitive and precise method is highlyndesirable. Capillary electrophoresis (CE) facilitates the development of methods which can rapidly processnlarge number of patient samples in an automated fashion. In contrast, conventional techniques includingnSouthern blotting, sequencing or standard gel electrophoresis are time consuming, cost ineffective andnrequire substantial amounts of each specimen. Robustness, ease of operation, good reproducibility andnlow cost are the main advantages of CE.nCurrently, most protocols adapted to automated CE represent (i) analyses of DNA fragment length ornDNA restriction patterns (RFLP), (ii) analyses of single-strand conformation polymorphism (SSCP) andn(iii) microsatellite analyses. Recently, automated detection of variations in the FRAXA (CGG)n regionn(fragile X syndrome), LDL receptor gene, p53 gene, MTHFR (methylenetetrahydrofolate reductase) gene,nHFE gene and others has been established on CE systems. These applications clearly demonstrate thensuitability of CE for high throughput screening in medical applications.