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Biochemical genetics of HPRT CapeTown : is the defect in the HPRT gene?
Author(s) -
Galloon T.,
Harley E. H.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800061
Subject(s) - hypoxanthine guanine phosphoribosyltransferase , lymphoblast , biology , nucleotide salvage , heterozygote advantage , microbiology and biotechnology , hypoxanthine phosphoribosyltransferase , gene , proband , genetics , purine , biochemistry , cell division , enzyme , allele , mutation , cell , nucleotide , cell culture , mutant
Summary HPRT CapeTown shows low levels of purine salvage in cultured cells which is associated with the unusual property of substrate inhibition by its purine substrates in erythrocyte haemolysates. Since it is not certain that the defect is in the HPRT gene, we studied enzyme kinetics in cell‐free preparations of erythrocytes and transformed lymphoblasts from both the proband and his obligate heterozygote daughter and studied purine salvage in intact cells. Substrate inhibition was demonstrated in erythrocyte and lymphoblast cell‐free extracts from the proband and his daughter and lymphoblasts from the daughter showed similar growth properties in selective media to her father. These results were all consistent with the defect being in the HPRT gene.