Characterization of Genomic DNA, mRNA and Enzyme Protein in Cases of HPRT Deficiency
Studies have been undertaken to define the molecular basis of HPRT-deficiency in a number of patients presenting with a wide spectrum of clinical symptoms (including gout and the Lesch-Nyhan syndrome). In these patients the concentration of HPRT cross-reacting material(CRM) as well as the presence of HPRT-mRNA and the absence of gross abnormalities in HPRT gene structure have been determined. 1, 2 Such studies are aimed at selecting those patients with possible point mutations in the HPRT coding region and are important in determining strategies for further study of the mutation, e. g. via enzyme purification and peptide analysis or via synthesis of cDNA from HPRT-mRNA and subsequent nucleotide sequencing.3
KeywordsBamHI Fragment Phosphoribosyl Transferase Hypoxanthine Phosphoribosyl Transferase HPRT Locus HPRT Deficiency
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