健康人和半乳糖血症患者红细胞中尿苷二磷酸半乳糖焦磷酸化酶的初步研究结果。

Preliminary results of UDP galactose pyrophosphorylase in the erythrocytes of healthy persons and in patients with galactosaemia.

作者信息

Mańkowski T, Radomyska B, Zbieg-Sendecka E

机构信息

Laboratory of Clinical Biochemistry, Mother and Child Institute, Warszawa, Poland.

出版信息

Mater Med Pol. 1990 Jul-Sep;22(3):191-3.

PMID:2132425

Abstract

Direct chromatographic isolation of UDP galactose and galactose-1-phosphate was used for determination of the activity of UDP galactose pyrophosphorylase in erythrocytes. The activity was determined by measuring the amount of UDP galactose produced from galactose-1-phosphate and uridine triphosphate. In homozygotes with galactosaemia the activity of the enzyme was nearly ten times lower than in controls, so this difference was highly significant statistically (p less than or equal to 0.001) and the respective values were 0.0051 +/- 0.0003 and 0.0418 +/- 0.0038 mumol of UDP galactose formed during 1 hour by 1 ml of erythrocytes (300 mg of haemoglobin). In heterozygotes with galactosaemia the activity of the enzyme had intermediate values between those in homozygotes and healthy controls.

摘要

采用直接色谱法分离尿苷二磷酸半乳糖（UDP半乳糖）和1-磷酸半乳糖，用于测定红细胞中UDP半乳糖焦磷酸化酶的活性。通过测量由1-磷酸半乳糖和三磷酸尿苷生成的UDP半乳糖的量来确定该活性。在患有半乳糖血症的纯合子中，该酶的活性比对照组低近10倍，因此这种差异在统计学上具有高度显著性（p≤0.001），相应的值分别为每1毫升红细胞（300毫克血红蛋白）在1小时内形成0.0051±0.0003和0.0418±0.0038微摩尔的UDP半乳糖。在患有半乳糖血症的杂合子中，该酶的活性值介于纯合子和健康对照组之间。