X-Linked Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency: Heterozygote Has Two Clonal Populations

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Science  26 Apr 1968:
Vol. 160, Issue 3826, pp. 425-427
DOI: 10.1126/science.160.3826.425


Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

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