Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography
An almost complete deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT) is known to be the cause of the Lesch—Nyhan syndrome (1,2). The gene for HPRT is located on the X—chromosome, so that heterozygous females show two populations of cells, one HPRT+ and one HPRT−, as predicted by the hypothesis of Lyon (3,4). Such mosaicism has been demonstrated in populations of cultured fibroblasts and in hair root follicles of heterozygotes (4,5).
KeywordsHair Root Magnesium Hydroxide Sodium Formate Magnesium Acetate Tissue Culture Method
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