Pampols T, Girós M L, González Sastre F, Sabater J
An Esp Pediatr. 1977 Oct;10(10):695-704.
A method is described for the fractionation of GM2 gangliosidosis diagnosis and carriers detection by fractionation of N-acetyl-beta-D-Hexosaminidase by electrophoresis on cellulose acetate gel. The hexosaminidase activity is resolved into three bands that are quantified by a densitometric procedure. The methods is applied to normal controls, normal pregnant women, patients of Tay-Sachs disease, heterozigous carriers of Tay-Sachs disease, amniotic fluid, uncultured amniotic cells. The results are compared with those obtained by the "heat inactivation method".
本文描述了一种通过在醋酸纤维素凝胶上进行电泳对N-乙酰-β-D-己糖胺酶进行分级分离，以诊断GM2神经节苷脂贮积症和检测携带者的方法。己糖胺酶活性被分离为三条带，通过光密度测定法进行定量。该方法应用于正常对照、正常孕妇、泰-萨克斯病患者、泰-萨克斯病杂合子携带者、羊水、未培养的羊膜细胞。将结果与通过“热灭活法”获得的结果进行比较。
