Analysis of Triplet-Repeat DNA by Capillary Electrophoresis

  • Yuriko Kiba
  • Yoshinobu Baba
Part of the Methods in Molecular Biology™ book series (MIMB, volume 163)


Recently, much attention has been focused on triplet-repeat expansions on the human genome, because they are reported to cause a number of neurodegenerative diseases such as the familial mental retardation, myotonic dystrophy, autosomal dominant diseases, or Huntington disease, which are so called triplet-repeat diseases (1,2). A hallmark of most of these diseases is the phenomenon of “anticipation,” which are not easily explained by Mendel’s Laws of genetic inheritance. This phenomenon includes a parental sex bias and a “decrease in the age at onset of the disease” or severity of the disease in consecutive generations due to the tendency of the unstable triplet repeat to lengthen when passed from one generation to the next. The expansion of the triplet-repeat element is associated with the defect, in which the extent of the expansion roughly correlates with the severity of the disease symptoms. The tripletrepeat element expansions are not stable, and it is unclear precisely how the expansions are directly associated with triplet-repeat diseases. Although several expansions encode enlarged polyglutamine tracts within their encoded protein, which might be expected to alter either the charge density and pI, or the folded structure of the protein, the mechanism for the etiology and progression of most of these diseases is not yet understood.


Huntington Disease Methyl Cellulose Myotonic Dystrophy Triplet Repeat Friedreich Ataxia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Baba, Y. (1996) Analysis of disease-causing genes and DNA-based drugs by capillary electrophoresis. J. Chromatogr. B 687, 271–302.CrossRefGoogle Scholar
  2. 2.
    Paulson, H. L. and Fischbeck, K. H. (1996) Triplet repeat diseases. Ann. Rev. Neurosci. 19, 79–107.PubMedCrossRefGoogle Scholar
  3. 3.
    Kiba, Y. and Baba, Y. (1999) Capillary electrophoretic behavior and conformational analysis of triplet-repeat DNA. Bunseki Kagaku 48, 193–203.Google Scholar
  4. 4.
    Kiba, Y. and Baba, Y. (1999) Unusual capillary electrophoretic behavior of triplet repeat DNA. J. Biochem. Biophys. Methods 41, 143–151.PubMedCrossRefGoogle Scholar
  5. 5.
    Kiba, Y. and Baba, Y. (submitted) A large DNA fragment migrates much faster than a small DNA fragment in polymer solution: Capillary electrophoresis as a new tool to elucidate the higher-order structure of human genes.Google Scholar
  6. 6.
    Kiba, Y., Ninomiya, M., and Baba, Y. (1999) DNA separation by capillary electrophoresis. Chromatography 20, 27–35.Google Scholar
  7. 7.
    Viovy, J.-L. and Heller, C. (1996) Principles of size-based separations in polymer solutions, in Capillary Electrophoresis in Analytical Biotechnology (Righetti, P. G., ed.), CRC press, Boca Raton, Chap. 11., pp. 477–508.Google Scholar
  8. 8.
    Kasuga, T., Cheng, J., and Mitchelson, K. R. (2001) Magnetic bead-isolated single-strand DNA for SSCP analysis, in Capillary Electrophoresis of Nucleic Acids, Vol. 2 (Mitchelson, K. R. and Cheng, J., eds.), Humana Press, Totowa, NJ, pp. 135–147.CrossRefGoogle Scholar
  9. 9.
    Marzilli, L. A., Koertje, C., and Vouros, P. (2001) Capillary electrophoresis — mass spectrometric analysis of DNA adducts, in Capillary Electrophoresis of Nucleic Acids, Vol. 1 (Mitchelson, K. R., and Cheng, J., eds.), Humana Press, Totowa, NJ, pp. 395–406.Google Scholar

Copyright information

© Humana Press Inc. 2001

Authors and Affiliations

  • Yuriko Kiba
    • 1
  • Yoshinobu Baba
    • 1
  1. 1.CREST, Japan Science and Technology Corp., Department of Medicinal Chemistry, Faculty of Pharmaceutical SciencesUniversity ofTokushimaTokushimaJapan

Personalised recommendations