Abstract
Human galactose-l-phosphate uridyl transferase was purified from post-mortem liver to a preparation having a single band in polyacryamide gel electrophoresis. This preparation was used successfully to produce a rabbit antibody that precipitates transferase activity from solution and that forms a precipitin band in double immunodiffusion. Hemoglobulin-free erythrocyte preparations from homozygous normal (Gt+/Gt+), Durate Variant (GtD/GtD), and galactosemic (GtG/GtG) individuals show immunoprecipitin bands in double immunodiffusion against this antibody that are identical with that of the purified transferase preparation. The results indicate that the three alleles code for immunologically similar enzyme proteins suggesting that the functionally less active Duarte Variant and inactive galactosemic enzyme proteins have resulted from “point” mutations.
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Tedesco, T., Mellman, W. GENETICS: Normal, Duarte Variant, and galactosemic alleles code for immunologically identical gal-I-P uridyl transferase enzyme protein. Pediatr Res 5, 420 (1971). https://doi.org/10.1203/00006450-197108000-00206
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DOI: https://doi.org/10.1203/00006450-197108000-00206