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Purine, Thymidylate and Amino Acid Requirements for Human Lymphocyte Transformation and Fragile Chromosome Site Expression

  • Floyd F. Snyder
  • Carol A. Harasym
  • C. C. Lin
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

Observations of heritable fragile site expression on human chromosomes being dependent on the type of tissue culture medium1,2 have provided a basis for investigating the metabolic aspects of fragile site expression. Fragile sites are non-staining gaps of variable width usually involving both chromatids. The sites are inherited in a Mendelian dominant manner and except for fragile site Xq27, which is associated with X-linked mental retardation, the rest of the fragile sites have not been associated with any phenotypic abnormality. Restriction of folic acid was found to be required for the expression of all but one fragile site. The expression of heritable fragile site 10g25 requires bromodeoxyuridine (BUdR) in medium deficient in folic acid and thymidine3. Recently, the frequency of fragile site Xq27 was found to be increased by 5-fluorodeoxyuridine (FUdR)4, a potent inhibitor of thymidylate synthetase.

Keywords

Fragile Site Dermatitis Herpetiformis Amino Acid Requirement Site Expression Deficient Medium 
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.

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References

  1. 1.
    G.R.Sutherland, Am. J. Human Genetics, 31: 125 (1979).Google Scholar
  2. 2.
    G.R.Sutherland, Science, 197: 265 (1977).PubMedCrossRefGoogle Scholar
  3. 3.
    G.R.Sutherland, E. Baker, and R.S. Seshadri, Am. J. Human Genetics 32: 542 (1980).Google Scholar
  4. 4.
    T. W. Glover, Am. J. Human Genetics, 33: 234 (1981).Google Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • Floyd F. Snyder
    • 1
  • Carol A. Harasym
    • 1
  • C. C. Lin
    • 1
  1. 1.Departments of Medical Biochemistry and Paediatrics Faculty of MedicineUniversity of CalgaryCalgaryCanada

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