标题：Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1978
卷号：75
期号：8
页码：3722-3726
DOI：10.1073/pnas.75.8.3722
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：Rates of purine synthesis de novo, as measured by the incorporation of [14C]formate into newly synthesized purines, have been determined in cultured human fibroblasts derived from normal individuals and from patients deficient in adenosine deaminase, purine nucleoside phosphorylase, or hypoxanthine phosphoribosyltransferase, three consecutive enzymes of the purine salvage pathway. All four types of cell lines are capable of incorporating [14C]formate into purines at approximately the same rate when the assays are conducted in purine-free medium. The purine overproduction that is characteristic of a deficiency in either the transferase or the phosphorylase and that results from a block in purine reutilization can be demonstrated by the resistance of [14C]formate incorporation into purines to inhibition by hypoxanthine in the case of hypoxanthine phosphoribosyltransferase-deficient fibroblasts and by resistance to inhibition by inosine in the case of purine nucleoside phosphorylase-deficient fibroblasts.
