Gene Dosage in Capillary Electrophoresis

Prenatal Diagnosis of Down’s Syndrome and Rh D/d Genotyping
  • Pier Giorgio Righetti
  • Cecilia Gelfi
  • Gian Franco Cossu
Part of the Methods in Molecular Medicine™ book series (MIMM, volume 27)

Abstract

The first instrumentation for capillary zone electrophoresis (CZE) became available 10 years ago, and, since that time, interest in the technique has grown at a steady pace. However, although CZE has been embraced by a diverse scientific community that includes biochemists, chemists, and molecular biologists, acceptance of CZE by the clinical laboratory community has been markedly slower. Nevertheless, two recent monographs, devoted to this particular topic, testify to the growing interest of CZE in the clinical science (1,2). In these two special issues, some reviews are devoted specifically to the topic of DNA analysis (3, 4, 5, 6). Another issue of Electrophoresis, dedicated to reviews on general topics of CZE, has recently appeared (7). An additional number of recent reviews testify to the great interest in the use of CZE for analysis of DNA for diagnostic purposes (8, 9, 10, 11, 12, 13).

Keywords

Cellulose Hepatitis Lymphoma Electrophoresis Polyacrylamide 

References

  1. 1.
    Landers, J. P. (ed.) (1997) Capillary electrophoresis in the clinical sciences. Electrophoresis 18, 1709–1905.Google Scholar
  2. 2.
    Krstulovic, A. M. (ed.) (1997) Capillary electrophoresis in the life sciences. J. Chromatogr. B. 697, 1–293.Google Scholar
  3. 3.
    Righetti, P. G. and Gelfi, C. (1997) Capillary electrophoresis of DNA for molecular diagnostics. Electrophoresis 18, 1709–1714.PubMedCrossRefGoogle Scholar
  4. 4.
    Wang, Y., Hung, S. C., Linn, J. F., Steiner, G., Glazer, A. N., Sidransky, D., and Mathies, R. A. (1997) Microsatellite-based cancer detection using capillary array elec-trophoresis and energy transfer fluorescent primers. Electrophoresis 18, 1742–1749.PubMedCrossRefGoogle Scholar
  5. 5.
    Personnet, D., Sugaya, K., Hammond, D., Robbins, M., and McKinney, M. (1997) Use of capillary electrophoresis with LIF-detection to assess mRNA molecules amplified by PCR: applications in the cloning of the cells. Electrophoresis 18, 1750–1759.CrossRefGoogle Scholar
  6. 6.
    Righetti, P. G. and Gelfi, C. (1997) Non-isocratic capillary electrophoresis for the detection of DNA point mutations. J. Chromatogr. B. 697, 195–206.CrossRefGoogle Scholar
  7. 7.
    El Rassi, Z. (ed.) (1997) Capillary electrophoresis and electrochromatography. Electrophoresis 18, 2123–2502.Google Scholar
  8. 8.
    Righetti, P. G. and Gelfi, C. (1996) Capillary electrophoresis of DNA, in Capillary Electrophoresis in Analytical Biotechnology (Righetti, P. G., ed.), CRC, Boca Raton, FL, pp. 431–476.Google Scholar
  9. 9.
    Righetti, P. G. and Gelfi, C. (1997) Recent advances in capillary electrophoresis of DNA fragments and PCR products in poly(N-substituted acrylamides). Anal. Biochem. 244, 95–207.CrossRefGoogle Scholar
  10. 10.
    Righetti, P. G. and Gelfi, C. (1997) in Analysis of nucleic acids by capillary electrophoresis (Heller, C., ed.), Vieweg, Braunschweig, Germany, pp. 255–273.Google Scholar
  11. 11.
    Righetti, P. G. and Gelfi, C. (1997) Recent advances in capillary electrophoresis of DNA fragments and PCR products. Biochem. Soc. Trans. 25, 267–273.PubMedGoogle Scholar
  12. 12.
    Lehmann, R., Liebich, H. M., and Voelter, W. (1996) Application of capillary electrophoresis in clinical chemistry. Developments from preliminary trials to routine analysis. J. Cap. Electrophor. 3, 89–110.Google Scholar
  13. 13.
    Baba, Y. (1996) Analysis of disease-causing genes and DNA-based drugs by capillary electrophoresis. Towards DNA diagnosis and gene therapy for human diseases. J. Chromatogr. B. 687, 271–302.CrossRefGoogle Scholar
  14. 14.
    Gelfi, C., Righetti, P. G., Brancolini, V., Cremonesi, L., and Ferrari, M. (1994) Capillary electrophoresis in polymer networks for analysis of PCR products: detection of F508 mutation in cystic fibrosis. Clin. Chem. 40, 1603–1605.PubMedGoogle Scholar
  15. 15.
    Gelfi, C., Orsi, A., Leoncini, F., Righetti, P. G., Spiga, I., Carrera, P., and Ferrari, M. (1995) Amplification of 18 dystrophin gene exons in DMD/BMD patients: simultaneous resolution by capillary electrophoresis in sieving liquid polymers. BioTechniques 19, 254–263.PubMedGoogle Scholar
  16. 16.
    Gelfi, C., Cossu, G., Carta, P., Serra, M., and Righetti P. G. (1995) Gene dosage in capillary electrophoresis: pre-natal diagnosis of Down’s syndrome. J. Chromatogr. A. 718, 405–412.PubMedCrossRefGoogle Scholar
  17. 17.
    Cossu, G., Angius, A., Gelfi, C., and Righetti, P. G. (1996) Rh D/d genotyping by quantitative polymerase chain reaction and capillary zone electrophoresis. Elec-trophoresis 17, 1911–1915.CrossRefGoogle Scholar
  18. 18.
    Kuypers, A. W. H. M., Meijerink, J. P. P., Smetsers, T. F. C. M., Linssen, P. C. M., and Mensink, E. J. B. M. (1994) Quantitative analysis of DNA aberrations amplified by competitive PCR using capillary electrophoresis. J. Chromatogr. B. 660, 271–277.CrossRefGoogle Scholar
  19. 19.
    Felmlee, T. A., Mitchell P. S., Ulfelder, K. J., Persing, D. H., and Landers, J. P. (1995) Capillary electrophoresis for the post-amplification detection of a hepatitis C virus-specific DNA products in human serum. J. Cap. Electrophor. 3, 125–130.Google Scholar
  20. 20.
    Rossomando, E. F., White, L., and Ulfelder, K. J. (1994) Capillary electrophoresis: separation and quantitation of reverse transcriptase PCR products from polio virus. J. Chromatogr. B. 656, 159–168.CrossRefGoogle Scholar
  21. 21.
    Lu, W., Han, D. S., Yuan, and J., Andrieu (1994) Multi-target PCR-analysis by capillary electrophoresis and laser-induced fluorescence. Nature 368, 269–271.PubMedCrossRefGoogle Scholar
  22. 22.
    Kolesar, J. M., Allen, P. G., and Doran, C. M. (1997) Direct quantification of HIV-1 RNA by capillary electrophoresis with laser-induced fluorescence. J. Chromatogr. B. 697, 189–194.CrossRefGoogle Scholar
  23. 23.
    Williams, S. J., Schwer, C., Krishnarao, A. S. M., Heid, C., Karger, B. L., and Williams, P. M. (1996) Quantitative competitive PCR: analysis of amplified products of the HIV-1 gag gene by capillary electrophoresis with LIF detection. Anal. Biochem. 236, 146–152.PubMedCrossRefGoogle Scholar
  24. 24.
    Gelfi, C., Leoncini, F., Righetti, P. G., Cremonesi, L., di Blasio, A. M., Carniti, C., and Vignali, M. (1995) Separation and quantitation of reverse transcriptase polymerase chain reaction fragments of basic fibroblast growth factor by capillary electrophoresis in polymer networks. Electrophoresis 16, 780–783.PubMedCrossRefGoogle Scholar
  25. 25.
    Lubin, M. B., Elashoff, J. D., Wang, S. W., Rotter, J. T., and Toyoda, H. (1991) Quantitative PCR for X-chromosome dosage in patients with sex chromosomal aneuploidies. Mol. Cell Probes 5, 307–312.PubMedCrossRefGoogle Scholar
  26. 26.
    Mansfield, E. S. (1993) Detection of trisomies 21 and 18 and of the triple-X syndrome by quantitative PCR. Hum. Mol. Genet. 2, 43–50.PubMedCrossRefGoogle Scholar
  27. 27.
    Bennett, P. R., Le Van Kim, C., Colin, Y., Warwick, R. M., Path, F. R. C., Chërif-Zahar, B., Fisk, N. M., and Cartron, J. P. (1993) Prenatal determination of fetal Rh D type by DNA amplification. N. Engl. J. Med. 329, 607–610.PubMedCrossRefGoogle Scholar
  28. 28.
    Chërif-Zahar, B., Raynal, V., Le Van Kim, C., D’Ambrosio, A. M., Bailly, P., Cartron, J. P., and Colin, Y. (1993) Structure and expression of the Rh locus in the Rh-deficiency syndrome. Blood 82, 656–662.PubMedGoogle Scholar
  29. 29.
    Sherma, V. and Litt, M. (1992) Highly polymorphic, chromosome 21-specific D21S11 marker for Down’s syndrome. Hum. Mol. Genet. 1, 67–73.CrossRefGoogle Scholar
  30. 30.
    Gelfi, C., Orsi, A., Leoncini, F., and Righetti, P. G. (1995) Fluidified polyacrylamides as molecular sieves in capillary zone electrophoresis of DNA fragments. J. Chromatogr. A. 689, 97–105.CrossRefGoogle Scholar
  31. 31.
    Krowczynska, A. M., Donoghue, K., and Hughes, L. (1995) Recovery of DNA, RNA and proteins from gels with microconcentrators. BioTechniques 18, 698–703.PubMedGoogle Scholar
  32. 32.
    Williams, P. E., Marino, M. A., Del Rio, S. A., Turni, L. A., and Devaney, J. M. (1994) Analysis of DNA restriction fragments and PCR products by capillary electrophoresis. J. Chromatogr. A. 680, 525–540.PubMedCrossRefGoogle Scholar
  33. 33.
    Stellwagen, N., Gelfi, C., and Righetti, P. G. (1997) Free solution mobility of DNA. Biopolymers 42, 687–703.PubMedCrossRefGoogle Scholar
  34. 34.
    Gelfi, C., Perego, M., Libbra, F., and Righetti, P. G. (1996) Comparison of the behaviour of N-substituted acrylamides and celluloses on double-stranded DNA separations by capillary electrophoresis at 25° and 60°C. Electrophoresis 17, 1342–1347.PubMedCrossRefGoogle Scholar
  35. 35.
    Sunada, W. M. and Blanch, H. W. (1997) Polymeric separation media for capillary electrophoresis of nucleic acids. Electrophoresis 18, 2243–2254.PubMedCrossRefGoogle Scholar
  36. 36.
    Chiari, M., Nesi, M., and Righetti, P. G. (1996) Surface modification of silica walls: a review of different methodologies, in Capillary Electrophoresis in Analytical Biotechnology (Righetti, P. G., ed.), CRC, Boca Raton, FL, pp. 1–36.Google Scholar
  37. 37.
    Ermakov, S. V., Capelli, L., and Righetti, P. G. (1996) Method for measuring very weak, residual electroosmotic flow in coated capillaries. J. Chromatogr. A. 744, 55–62.CrossRefGoogle Scholar
  38. 38.
    Grossman, P. D. and Soane, D. S. (1990) Orientation effects on the electrophoretic mobility of rod shaped molecules in free solution. Anal. Chem. 62, 1592–1599.PubMedCrossRefGoogle Scholar
  39. 39.
    Van der Schanz, M. J., Beckers, J. L., Molling, M. C., and Everaerts, F. M. (1995) Intrinsic isotachophoretic preconcentration in capillary gel electrophoresis of DNA fragments. J. Chromatogr. A. 717, 139–147.CrossRefGoogle Scholar
  40. 40.
    McCord, B. R., McClure, D. L., and Jung, J. M. (1993) CZE of polymerase chain reaction amplified DNA using detection with an intercalating dye. J. Chromatogr. 652, 75–82.CrossRefGoogle Scholar
  41. 41.
    Simo-Alfonso, E., Gelfi, C., Sebastiano, R., Citterio, A., and Righetti, P. G. (1996) Novel acrylamido monomers with higher hydrophilicity and improved hydrolytic stability. II: properties of N-acryloyl amino propanol. Electrophoresis 17, 732–737.PubMedCrossRefGoogle Scholar

Copyright information

© Humana Press Inc. 1999

Authors and Affiliations

  • Pier Giorgio Righetti
    • 1
  • Cecilia Gelfi
    • 2
  • Gian Franco Cossu
    • 3
  1. 1.Department of Agricultural and Industrial BiotechnologiesUniversity of VeronaVeronaItaly
  2. 2.ITBACNRMilanoItaly
  3. 3.Department of ImmunohematologyOspedale Civile di SassariSassariItaly

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