Wood S, MacDougall B G
Am J Hum Genet. 1976 Sep;28(5):489-95.
The residual hexosaminidase isoenzymes in juvenile Sandhoff and infantile Sandhoff disease fibroblasts, have been determined by starch gel electrophoresis and column isoelectric focusing. Hex A and hex S are the major residual isozymes in fibroblasts from the juvenile patient, while hex B is barely detectable. Only hex S could be detected in fibroblasts from infantile Sandhoff patients. These results suggest that the defects in juvenile and infantile Sandhoff disease may be different allelic modifications of the beta subunit common to hex A and hex B.
已通过淀粉凝胶电泳和柱等电聚焦法测定了青少年型和婴儿型桑德霍夫病成纤维细胞中的残留己糖胺酶同工酶。己糖胺酶A（Hex A）和己糖胺酶S（Hex S）是青少年患者成纤维细胞中的主要残留同工酶，而己糖胺酶B（Hex B）几乎检测不到。在婴儿型桑德霍夫病患者的成纤维细胞中仅能检测到Hex S。这些结果表明，青少年型和婴儿型桑德霍夫病的缺陷可能是Hex A和Hex B共有的β亚基的不同等位基因修饰。
