Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1963 Sep 1;118(3):359-70.
doi: 10.1084/jem.118.3.359.

THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT

A ROBINSON

THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT

A ROBINSON. J Exp Med. .

Abstract

A simple, rapid, and direct method for measuring the activities of the galactokinase and Gal-1-P uridyl transferase enzymes in human erythrocytes is presented. The method has been applied to measurement of enzyme activities in a group of 37 presumably normal persons, 3 patients with galactosemia, 6 known heterozygous carriers of the defect, and 9 relatives of carriers. In every case the test unambiguously identified the individual's status as normal, heterozygotic carrier, or homozygously defective. Use of the test in genetic counseling and genetic epidemological studies is discussed.

PubMed Disclaimer

References

    1. Ann Hum Genet. 1961 Dec;25:179-88 - PubMed
    1. Clin Chim Acta. 1961 Jul;6:578-80 - PubMed
    1. Proc Natl Acad Sci U S A. 1956 Feb;42(2):49-51 - PubMed
    1. Genetics. 1956 Jan;41(1):142-56 - PubMed
    1. Science. 1961 Oct 6;134(3484):1007-8 - PubMed