Southern Analysis of the Lesch-Nyhan Locus in Man

  • R. L. Nussbaum
  • C. T. Caskey
  • F. Gilbert
  • W. Nyhan
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

The Lesch-Nyhan (LN) syndrome of mental retardation, hyperuricemia and self-mutilation is an X-linked disease of man resulting from a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) (1). It is known that a number of LN patients exhibit no enzyme activity and no crossreacting antigen (1,2); mutation in these patients may be due to substantial deletions or insertions detectable by Southern analysis. We have undertaken an initial survey of LN patients looking for major gene alterations detectable by Southern analysis; our findings constitute the body of this report.

Keywords

Recombination Neuroblastoma Purine Transferase Hyperuricemia 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    W.N. Kelley and J.B. Wyngaarden, The Lesch-Nyhan syndrome, in “The Metabolic Basis of Inherited Disease,” J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson, eds., McGraw-Hill, New York (1978).Google Scholar
  2. 2.
    C.T. Caskey and G.D. Kruh, The HPRT locus, Cell 16: 1 (1979).PubMedCrossRefGoogle Scholar
  3. 3.
    J. Brennand, A.C. Chinault, D.S. Konecki, D.W. Melton and C.T. Caskey, Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences, Proc. Natl. Acad. Sci. USA 79: 1950 (1982).PubMedCrossRefGoogle Scholar
  4. 4.
    A.C. Chinault, J. Brennand, D.S. Konecki, R.L. Nussbaum and C.T. Caskey, Characterization and use of cloned sequences of the hypoxanthine-guanine phosphoribosyltransferase gene, this volume.Google Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • R. L. Nussbaum
    • 1
    • 2
    • 3
  • C. T. Caskey
    • 1
    • 2
    • 3
  • F. Gilbert
    • 1
    • 2
    • 3
  • W. Nyhan
    • 1
    • 2
    • 3
  1. 1.Howard Hughes Medical Institute Laboratories and Departments of Medicine and BiochemistryBaylor College of MedicineHoustonUSA
  2. 2.Department of PediatricsUniversity of PennsylvaniaSan DiegoUSA
  3. 3.Department of PediatricsUniversity of CaliforniaSan DiegoUSA

Personalised recommendations