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Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families *

Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3... Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyhan syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyhan syndrome were investigated. Cells from patients with the Lesch-Nyhan syndrome showed almost no hypoxanthine incorporation and resistance to concentrations of 8-azaguanine up to 10-3 M, whereas cells of patients with partial H-PRT deficiency demonstrated variant patterns of hypoxanthine uptake and partial resistance to 8-azaguanine. Lyophilisation of fibroblast sediment from patients with the Lesch-Nyhan syndrome and patients with variant H-PRT mutations showed activation of the deficient or partially deficient H-PRT enzyme. No such activation was observed in healthy controls. Activation of lyophilised fibroblast extract from patients and controls was not obtained. These results suggest that H-PRT could be associated with the cell membranes. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Genetic heterogeneity of hypoxanthine-phosphoribosyl transferase in human fibroblasts of 3 families *

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References (23)

Publisher
Wiley
Copyright
1977 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1977.tb01299.x
Publisher site
See Article on Publisher Site

Abstract

Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyhan syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyhan syndrome were investigated. Cells from patients with the Lesch-Nyhan syndrome showed almost no hypoxanthine incorporation and resistance to concentrations of 8-azaguanine up to 10-3 M, whereas cells of patients with partial H-PRT deficiency demonstrated variant patterns of hypoxanthine uptake and partial resistance to 8-azaguanine. Lyophilisation of fibroblast sediment from patients with the Lesch-Nyhan syndrome and patients with variant H-PRT mutations showed activation of the deficient or partially deficient H-PRT enzyme. No such activation was observed in healthy controls. Activation of lyophilised fibroblast extract from patients and controls was not obtained. These results suggest that H-PRT could be associated with the cell membranes.

Journal

Clinical GeneticsWiley

Published: Feb 1, 1977

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