Southern Analysis of the Lesch-Nyhan Locus in Man
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.
KeywordsRestriction Pattern Southern Analysis Mouse Neuroblastoma Howard Hughes Medical Institute Mouse Neuroblastoma Cell
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- 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
- 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.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