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Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing

✍ Scribed by R. I. Kelley; H. Harris; W. J. Mellman

Publisher: Springer
Year: 1983
Tongue: English
Weight: 749 KB
Volume: 63
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00284663

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✦ Synopsis

Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygotes, the ability of IEF to distinguish the residual GALT activity in two different galactosemic fibroblast lines and in revertants from them is demonstrated.

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