Shin-Bühring Y, Osang M, Ziegler R, Schaub J
Clin Chim Acta. 1976 Aug 2;70(3):371-7. doi: 10.1016/0009-8981(76)90349-1.
A simplified radioactive assay for galactose-1-phosphate uridyltransferase (EC 2.7.7.12) using a small DEAE-cellulose column for the identification of the endproduct (uridine diphosphate galactose) is described. The enzyme activities in red blood cell hemolysates of normal subjects are in the range of 24 to 33 (average 30.3) mumol UDPgalactose produced per g hemoglobin per h and in fibroblasts 0.39 and 1.39 (average 0.71) nmol per mg protein per min. Furthermore, different isozymes of red blood cell galactose-1-phosphate uridyltransferase were separated on DEAE-cellulose columns. In the case of a normal genotype, most of the enzyme activity is eluted at the earlier fractions with the low molar phosphate buffer, whereas the Duarte variant appeared at later fractions with higher molar phosphate buffer.
描述了一种用于半乳糖-1-磷酸尿苷转移酶（EC 2.7.7.12）的简化放射性测定法，该方法使用小型二乙氨基乙基纤维素柱来鉴定终产物（尿苷二磷酸半乳糖）。正常受试者红细胞溶血产物中的酶活性范围为每克血红蛋白每小时产生24至33（平均30.3）微摩尔尿苷二磷酸半乳糖，在成纤维细胞中为每毫克蛋白质每分钟0.39至1.39（平均0.71）纳摩尔。此外，红细胞半乳糖-1-磷酸尿苷转移酶的不同同工酶在二乙氨基乙基纤维素柱上被分离。在正常基因型的情况下，大部分酶活性在早期馏分中被低摩尔磷酸盐缓冲液洗脱，而杜阿尔特变体出现在后期馏分中，用较高摩尔磷酸盐缓冲液洗脱。
