Different Properties in Lymphoblastoid Cell Lines from Patients with Bloom Syndrome

  • Tomoko Hashimoto
  • Takahiko Sukenaga
  • Patricia Lopetegui
  • Jun-ichi Furuyama


In 3 lymphoblastoid cell lines derived from 3 patients with Bloom syndrome (BS), the baseline frequency of sister chromatid ex changes (SCEs), chromosomal breakage, sensitivity to ethylmethane-sulfonate (EMS), and bromodeoxyuridine (BrdUrd) were examined. The SCE frequency of 2 BS lines (EB-BS-NoKi-2 and EB-BS-AkSak) was about 2 to 2.5 times those of the normal cell lines, while that of another BS line (EB-BS-2KA) was about 10 to 11 times. The net increase in the number of SCEs in EB-BS-NoKi-2 and EB-BS-AkSak lines induced by EMS was similar to that of normal cell lines, but it was high in the BS-2KA line. Sensitivity to BrdUrd was examined using SCE induction at different concentrations of BrdUrd and by cell cycle analysis. EB-BS-NoKi-2 and EB-BS-AkSak lines were no more sensitive than normal cell lines, while the EB-BS-2KA line was more sensitive than controls. High frequency of chromosomal breakage was found only in the EB-BS-2KA line. These results suggest that 2 types of cells exist in the B-lymphoblastoid cells of BS.


Sister Chromatid Exchange Lymphoblastoid Cell Line Ataxia Telangiectasia Chromosomal Breakage Normal Cell Line 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Chaganti, R.S.K., S. Schonberg, and J. German (1974) A manyfold increase in sister chromatid exchanges in Bloom’s syndrome lymphocytes. Proc. Natl. Acad. Sci., USA 71:4508–4512.PubMedCrossRefGoogle Scholar
  2. 2.
    Henderson, E., and J. German (1978) Development and character ization of lymphoblastoid cell lines (LCLs) from “chromosome breakage syndrome” and related genetic disorders. J. Supramol. Struct. (Suppl.) 2:83.Google Scholar
  3. 3.
    Hashimoto, T., S. Gamo, J. Furuyama, and H. Chiyo (1983) Loss of high frequency of sister chromatid exchanges in Epstein-Barr virus-established lymphoblastoid cell lines from two patients with Bloom’s syndrome. Human Genet. 63:75–76.CrossRefGoogle Scholar
  4. 4.
    Shiraishi, Y., S. Yoshimoto, I. Miyoshi, N. Kondo, T. Orii, and A.A. Sandberg (1983) Dimorphism of sister chromatid exchange in Bloom’s syndrome B-and T-cell lines transformed with Epstein-Barr and adult T-cell leukemia viruses. Cancer Res. 43:3836–3840.PubMedGoogle Scholar
  5. 5.
    Krepinsky, A.B., J.A. Heddle, and J. German (1979) Sensitivity of Bloom’s syndrome lymphocytes to ethyl methanesulfonate. Human Genet. 50:151–156.CrossRefGoogle Scholar
  6. 6.
    Shiraishi, Y., T.H. Yoshida, and A.A. Sandberg (1983) Analysis of bromodeoxyuridine-associated sister chromatid exchanges (SCEs) in Bloom syndrome based on cell fusion: Single and twin SCEs in endoreduplication. Proc. Natl. Acad. Sci., USA. 80: 4369–4373.PubMedCrossRefGoogle Scholar
  7. 7.
    German, J., R. Archibald, and D. Bloom (1965) Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science 148:506–507.PubMedCrossRefGoogle Scholar
  8. 8.
    Cohen, M.M., M. Sagi, Z. Ben-Zur, T. Schaap, R. Voss, G. Kohn, and H. Ben-Bassat (1979) Ataxia telangiectasia: Chromosomal stability in continuous lymphoblastoid cell lines. Cytogenet. Cell Genet. 23:44–52.PubMedCrossRefGoogle Scholar
  9. 9.
    Ishida, R., and M. Buchwald (1982) Susceptibility of Fanconi’s anemia lymphoblasts to DNA-cross-linking and alkylating agents. Cancer Res. 42:4000–4006.PubMedGoogle Scholar
  10. 10.
    Cohen, M.M., K. Hirschhorn, and W.A. Frosch (1967) In vivo and in vitro chromosomal damage induced by LSD-25. New Engl. J. Med. 277:1043–1049.PubMedCrossRefGoogle Scholar
  11. 11.
    Ray, J.H., and J. German (1983) The cytogenetics of the “chro mosome-breakage syndromes.” In Chromosome Mutation and Neopla sia, J. German, ed. Alan R. Liss, Inc., New York, pp. 135–167.Google Scholar
  12. 12.
    German, J., S. Schonberg, E. Louie, and R.S.K. Chaganti (1977) Sister-chromatid exchanges in lymphocytes. Am. J. Human Genet., 29:248–255.Google Scholar
  13. 13.
    Warren, S.T., R.A. Schultz, C.-C. Chang, M.H. Wade, and J.E. Trosko (1981) Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc. Natl. Acad. Sci., USA 78:3133–3137.PubMedCrossRefGoogle Scholar
  14. 14.
    Vijayalaxmì, H.J. Evans, J.H. Ray, and J. German (1983) Bloom’s syndrome: Evidence for an increased mutation frequency in vivo. Science 221:851–853.PubMedCrossRefGoogle Scholar
  15. 15.
    Rüdiger, H.W., C.R. Bartram, W. Harder, and E. Passarge (1980) Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. Am. J. Human Genet. 32:150–157.Google Scholar
  16. 16.
    Passarge, E. (1983) Bloom’s syndrome. In Chromosome Mutation and Neoplasia, J. German, ed. Alan R. Liss, Inc., New York, pp. 11–21.Google Scholar
  17. 17.
    Cohen, M.M., C.E. Fruchtman, S.J. Simpson, and A.O. Martin (1982) The cytogenetic response of Fanconi’s anemia lymphoblastoid cell lines to various clastogens. Cytogenet. Cell Genet. 34:230–240.PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Tomoko Hashimoto
    • 1
  • Takahiko Sukenaga
    • 2
  • Patricia Lopetegui
    • 1
  • Jun-ichi Furuyama
    • 1
  1. 1.Department of GeneticsHyogo College of MedicineNishinomiya 663Japan
  2. 2.Department of RadiologyHyogo College of MedicineNishinomiya 663Japan

Personalised recommendations