Farrell D F, MacMartin M P
Ann Neurol. 1981 Mar;9(3):232-6. doi: 10.1002/ana.410090305.
Acid beta-galactosidase activity can be separated into multiple molecular forms by isoelectric focusing on cellulose acetate membranes. The residual acid beta-galactosidase in the juvenile form of GM1 gangliosidosis has three bands of enzyme activity with an apparent isoelectric pH (pI) range from 4.9 to 5.2, whereas that in the infantile form has a single band with an apparent pI of 5.2. Separation of residual acid beta-galactosidase into multiple molecular forms by analytical isoelectric focusing demonstrates enzymatic differences that can be correlated with the allelic mutations that affect the GM1 ganglioside beta-galactosidase locus.
通过在醋酸纤维素膜上进行等电聚焦，酸性β-半乳糖苷酶活性可被分离为多种分子形式。GM1神经节苷脂贮积症青少年型中的残余酸性β-半乳糖苷酶有三条酶活性带，表观等电pH（pI）范围为4.9至5.2，而婴儿型中的残余酸性β-半乳糖苷酶有一条表观pI为5.2的单带。通过分析性等电聚焦将残余酸性β-半乳糖苷酶分离为多种分子形式，显示出酶学差异，这些差异可与影响GM1神经节苷脂β-半乳糖苷酶位点的等位基因突变相关联。
