Incorporation of 3H-Hypoxanthine in PHA Stimulated HG-PRT Deficient Lymphocytes

作者: C. H. M. M. de Bruyn , T. L. Oei

DOI: 10.1007/978-1-4684-3294-7_28

关键词:

摘要: Autoradiography with labeled substrates on cultured fibroblasts has been used to visualize HG-PRT deficiency: cells of deficient individuals lack the ability incorporate hypoxanthine or guanine into nucleic acids, because these purine bases can not be converted their corresponding mononucleotides (1,2). The alternative pathway form IMP GMP via inosine guanosine is likely, for, although nucleoside phosphorylase present, there no definite evidence for existence inosine- kinase in human (3,4).

参考文章(8)
Joseph Dancis, Rody P. Cox, Peter H. Berman, Valerie Jansen, M. Earl Balis, Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency). Biochemical Genetics. ,vol. 3, pp. 609- 615 ,(1969) , 10.1007/BF00485483
M.R. Payne, J. Dancis, P.H. Berman, M.E. Balis, Inosine kinase in leucocytes of Lesch-Nyhan patients☆ Experimental Cell Research. ,vol. 59, pp. 489- 490 ,(1970) , 10.1016/0014-4827(70)90661-0
C.H.M.M. De Bruyn, T.L. Oei, Lesch-Nyhan syndrome: Incorporation of hypoxanthine in stimulated lymphocytes☆ Experimental Cell Research. ,vol. 79, pp. 450- 452 ,(1973) , 10.1016/0014-4827(73)90466-7
B. R. Migeon, V. M. D. Kaloustian, W. L. Nyhan, W. J. Young, B. Childs, X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. ,vol. 160, pp. 425- 427 ,(1968) , 10.1126/SCIENCE.160.3826.425
Gerald C. Mueller, Mary Le Mahieu, Induction of ribonucleic acid synthesis in human leucocytes by phytohemagglutinin. Biochimica et Biophysica Acta. ,vol. 114, pp. 100- 107 ,(1966) , 10.1016/0005-2787(66)90257-7
T. Friedmann, J.E. Seegmiller, J.H. Subak-Sharpe, Evidence against the existence of guanosine and inosine kinases in human fibroblasts in tissue culture Experimental Cell Research. ,vol. 56, pp. 425- 429 ,(1969) , 10.1016/0014-4827(69)90034-2
C. H. M. M. de Bruyn, T. L. Oei, Purine Metabolism in Intact Erythrocytes from Controls and HG-PRT Deficient Individuals Advances in Experimental Medicine and Biology. ,vol. 41, pp. 223- 227 ,(1974) , 10.1007/978-1-4684-3294-7_27