Abstract
Studies are being undertaken to define the molecular basis of the enzyme abnormality in a number of Australian patients with HPRT-deficiency. These studies include quantitation of HPRT enzyme protein by immunological techniques, as well as Southern and Northern blotting analysis of genomic DNA and RNA isolated from lymphocyte cultures. Cross-reacting material to normal HPRT antibody was detected in erythrocyte and lymphoblast cells in all but one patient with partial HPRT-deficiency.
Digestion of DNA with a number of restriction enzymes demonstrated a normal-sized HPRT gene in each patient. Normal HPRT-message was demonstrated in four patients with partial HPRT-deficiency. However two Lesch-Nyhan patients had abnormal message; one had reduced levels of HPRT-mRNA and the other a complete absence of HPRT-mRNA. These studies were aimed at selecting those patients with possible point mutations in the HPRT-coding region. Sequencing of HPRT-cDNA is proceeding in these patients.
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Gordon, R., Keouqh, D., Sculley, D. et al. 44 CHARACTERIZATION OF GENOMIC DNA, mRNA AND ENZYME PROTEIN IN CASES OF HPRT-DEFICIENCY. Pediatr Res 24, 118 (1988). https://doi.org/10.1203/00006450-198807000-00068
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DOI: https://doi.org/10.1203/00006450-198807000-00068
