人红细胞中半乳糖激酶和1-磷酸半乳糖尿苷酰转移酶活性的测定。一种针对半乳糖血症缺陷杂合子携带者的推测性检测。
THE ASSAY OF GALACTOKINASE AND GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES. A PRESUMED TEST FOR HETEROZYGOUS CARRIERS OF THE GALACTOSEMIC DEFECT.
作者信息
ROBINSON A
出版信息
J Exp Med. 1963 Sep 1;118(3):359-70. doi: 10.1084/jem.118.3.359.
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.
摘要
本文介绍了一种简单、快速且直接的方法，用于测量人红细胞中半乳糖激酶和1-磷酸半乳糖尿苷酰转移酶的活性。该方法已应用于测量一组37名推测为正常人、3名半乳糖血症患者、6名已知缺陷杂合携带者以及9名携带者亲属的酶活性。在每种情况下，该检测都能明确确定个体的状态为正常、杂合携带者或纯合缺陷。文中还讨论了该检测在遗传咨询和遗传流行病学研究中的应用。
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