Saifer A, Parkhurst G W, Amoroso J
Clin Chem. 1975 Mar;21(3):334-42.
Three hexosaminidase (EC 3.2. 1.52) isoenzymes other than isoenzymes A and B in body fluids have been separated by chromatography on diethylaminoethyl cellulose. By inserting a microcolumn into a continuous-flow system for automated, fluorometric hexosaminidase analysis [Clin. Chem. 20, 538 (1974)], samples eluted with buffered-NaCl gradients can be continuously monitored. Isoenzyme patterns were obtained for fluids from normal individuals, pregnant women, Tay-Sachs disease carriers, pregnant carriers, and patients with the disease. These chromatograms revealed a hitherto undetected isoenzyme (I-3) in serum. An increase in serum hexosaminidase isoenzyme I-2 (or P) during pregnancy is characteristic of a carrier pattern. Our data show that serum and urinary hexosaminidase isoenzyme patterns may be used in addition to leukocyte analysis, to distinguish a pregnant carrier from a normal pregnant woman. All fluids tested demonstrated no isoenzyme A activity and above-normal activity of isoenzymes B and (or) I-2 in homozygotes. Urine is preferred fluid for postnatal and amniotic fluid for the prenatal diagnosis of the disease. Quantitative data on isoenzyme A obtained with the procedure described here agree well with those obtained by heat-and pH-inactivation methods.
通过二乙氨基乙基纤维素柱色谱法，已分离出体液中除A和B同工酶之外的三种己糖胺酶（EC 3.2.1.52）同工酶。将微柱插入用于自动荧光法己糖胺酶分析的连续流动系统中[《临床化学》20, 538 (1974)]，用缓冲氯化钠梯度洗脱的样品可得到连续监测。获得了正常个体、孕妇、泰-萨克斯病携带者、妊娠携带者及患病患者体液的同工酶图谱。这些色谱图显示血清中存在一种迄今未被检测到的同工酶（I-3）。孕期血清己糖胺酶同工酶I-2（或P）升高是携带者模式的特征。我们的数据表明，除白细胞分析外，血清和尿己糖胺酶同工酶图谱可用于区分妊娠携带者和正常孕妇。所有检测的体液在纯合子中均未显示同工酶A活性，而异工酶B和（或）I-2活性高于正常。尿液是产后诊断该病的首选体液，羊水是产前诊断该病的首选体液。用本文所述方法获得的同工酶A定量数据与通过热灭活和pH灭活方法获得的数据非常吻合。
