Human Genetics

, Volume 85, Issue 1, pp 111–116

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures

  • Thomas R. Skopek
  • Leslie Recio
  • Deborah Simpson
  • Louis Dallaire
  • Serge B. Melancon
  • Helene Ogier
  • J. Patrick O'Neill
  • Michael T. Falta
  • Janice A. Nicklas
  • Richard J. Albertini
Original Investigations

DOI: 10.1007/BF00276334

Cite this article as:
Skopek, T.R., Recio, L., Simpson, D. et al. Hum Genet (1990) 85: 111. doi:10.1007/BF00276334
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Summary

The frequency of hprt mutants in peripheral blood T-lymphocytes of two putative Lesch-Nyhan individuals and their parents was determined by a cell cloning assay to quantify the frequency of thioguanine-resistant mutants. The results confirmed the Lesch-Nyhan diagnosis and demonstrated that the mother has an elevated mutant frequency consistent with being heterozygous for an hprt mutation. Mass cultures of T-lymphocytes from both the children and their mother, as well as cultures of hprt mutant clones from the mother, were employed as sources of mRNA for cDNA sequence analysis. These hprt mutants show a single base substitution (T→C transition) at position 170 (exon 3). The predicted amino acid change is the substitution of threonine for methionine56. We have designated this new Lesch-Nyhan mutation hprtMontreal. The use of T-lymphocyte cultures allows rapid sequence analyses of hprt mutations, as well as family studies to define the origin of a particular mutation.

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Thomas R. Skopek
    • 1
  • Leslie Recio
    • 1
  • Deborah Simpson
    • 1
  • Louis Dallaire
    • 2
  • Serge B. Melancon
    • 2
  • Helene Ogier
    • 2
  • J. Patrick O'Neill
    • 3
  • Michael T. Falta
    • 3
  • Janice A. Nicklas
    • 3
  • Richard J. Albertini
    • 3
  1. 1.Chemical Industry Institute of ToxicologyUSA
  2. 2.Hôpital Sainte JustineMontrealCanada
  3. 3.Genetics Laboratory, University of VermontBurlingtonUSA