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PMID: 7228031 Published · ppublish English Journal Article

HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.

Human genetics ·Vol. 57 ·No. 2 ·1981-00-00 ·Pages 185-8

Strauss M, Lübbe L, Geissler E

Abstract

For three patients with the Lesch-Nyhan syndrome the existence of normal amounts of catalytically inactive hypoxanthine-guanine phosphoribosyltransferase (HGPRT) protein was demonstrated by using antibodies against the normal enzyme subunits. The lack of enzyme activity is reverted in virus transformed cells. Individual revertant cell clones contain different HGPRT enzymes as demonstrated here by isoelectric focusing. The data strongly support the idea of a structural gene mutation as the cause of enzyme deficiency in the Lesch-Nyhan syndrome.

MeSH Terms
Cross Reactions Genes Humans Hypoxanthine Phosphoribosyltransferase/deficiency,genetics,immunology Isoelectric Point Lesch-Nyhan Syndrome/enzymology,genetics Molecular Weight Mutation
Chemicals
Hypoxanthine Phosphoribosyltransferase
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Strauss M
Lübbe L
Geissler E
References (20)
20 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00282019
Published
1981-00-00
Pages
185-8
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00282019 View journal details
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