Bosserhoff, Anja-Katrin and Hellerbrand, Claus and Buettner, Reinhard (2000) Use of capillary electrophoresis for high throughput screening in biomedical applications. A minireview. COMBINATORIAL CHEMISTRY & HIGH THROUGHPUT SCREENING, 3 (6). pp. 455-466. ISSN 1386-2073, 1875-5402
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Diagnosis of inherited diseases or cancer predispositions frequently involves determination of specific mutations or polymorphisms. The number of characterized monogenetic and polygenetic diseases is significantly rising every year. As a result, an increasing number of patient samples with a rising complexity of genetic diseases require molecular diagnostics. In order to apply genetic analyses to large groups of patients or population screening, automation of a sensitive and precise method is highly desirable. Capillary electrophoresis (CE) facilitates the development of methods which can rapidly process large number of patient samples in an automated fashion. Tn contrast, conventional techniques including Southern blotting, sequencing or standard gel electrophoresis are time consuming, cost ineffective and require substantial amounts of each specimen. Robustness, ease of operation, good reproducibility and low cost are the main advantages of CE. Currently, most protocols adapted to automated CE represent (i) analyses of DNA fragment length or DNA restriction patterns (RFLP), (ii) analyses of single-strand conformation polymorphism (SSCP) and (iii) microsatellite analyses. Recently, automated detection of variations in the FRAXA (CGG)n region (fragi le X syndrome), LDL receptor gene, p53 gene, MTHFR (methylenetetrahydrofolatereductase) gene, HFE gene and others has been established on CE systems. These applications clearly demonstrate the suitability of CE for high throughput screening in medical applications.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | POLYMERASE-CHAIN-REACTION; STRAND CONFORMATION POLYMORPHISM; ALLELE-SPECIFIC AMPLIFICATION; LASER-INDUCED FLUORESCENCE; P53 POINT MUTATIONS; ARRAY ELECTROPHORESIS; GEL-ELECTROPHORESIS; COLORECTAL-CANCER; GENETIC-ANALYSIS; CYSTIC-FIBROSIS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin I |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Mar 2022 07:29 |
| Last Modified: | 14 Mar 2022 07:29 |
| URI: | https://pred.uni-regensburg.de/id/eprint/41992 |
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