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Science 31 July 1970:
Vol. 169. no. 3944, pp. 482 - 485
DOI: 10.1126/science.169.3944.482
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Articles

Diploid Azaguanine-Resistant Mutants of Cultured Human Fibroblasts

Richard J. Albertini 1 and Robert DeMars 1

1 Department of Medical Genetics, University of Wisconsin, Madison 53706

Two azaguanine-resistant clones of cultured, human fibroblasts were isolated from unrelated strains of karyotypically normal, male cells. The most resistant mutant has little hypoxanthine-guanine phosphoribosyltransferase activity, is virtually unable to incorporate hypoxanthine (a normal substrate of the enzyme), and resembles fibroblasts cultured from boys with the Lesch-Nyhan syndrome. The less resistant mutant has about one-third as much enzyme activity as its parent strain and is less able to utilize hypoxanthine. Both mutants are morphologically and karyotypically normal. These mutations may have occurred at the X-chromosomal, hypoxanthine-guanine phosphoribosyltransferase locus and may provide a realistic experimental model for studying mutation in human genetic material.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
New Prospects for Understanding and Control of Genetic Diseases.
J. E. Seegmiller (1972)
Arch Intern Med 130, 181-185
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