Galactose-1-phosphate Uridyl Transferase in Density-fractionated Erythrocytes. Studies of Normal and Mutant Enzymes

Overview

Journal Hum Genet

Specialty Genetics

Date 1989 May 1

PMID 2542154

Citations 3

Authors

R I Kelley

D M Feinberg

S Segal

Affiliations

Soon will be listed here.

Abstract

Galactose-1-phosphate uridyl transferase (GALT), the deficient enzyme in classical galactosemia, was studied by Percoll-gradient age-fractionation of erythrocytes. For normal GALT, a rapid and substantial decrease in GALT activity and loss of most of two isozymes was found to occur in the reticulocyte fractions. The loss of activity was then followed by relative stabilization of both GALT-specific activity and microheterogeneity in mature and aging erythrocytes. When applied to the study of mutant GALT from galactosemic patients, the Percoll-gradient fractionation method permitted detection in the reticulocyte-enriched fractions of up to 5% of normal GALT-specific activity and an isoelectric focusing pattern essentially the same as that of normal GALT. Percoll-gradient fractionation of erythrocytes offers a simple and direct method to study characteristics of GALT activity and microheterogeneity in normal and galactosemic human erythrocytes.

Citing Articles

Regulation of galactose metabolism: implications for therapy.

Segal S, Rogers S J Inherit Metab Dis. 1990; 13(4):487-500.

PMID: 2122115 DOI: 10.1007/BF01799506.

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Reichardt J, Packman S, Woo S Am J Hum Genet. 1991; 49(4):860-7.

PMID: 1897530 PMC: 1683190.

Molecular analysis of 11 galactosemia patients.

Reichardt J Nucleic Acids Res. 1991; 19(25):7049-52.

PMID: 1766867 PMC: 332510. DOI: 10.1093/nar/19.25.7049.

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