Weil D, Van Cong N, Rebourcet R, Frézal J
Ann Genet. 1975 Sep;18(3):163-8.
The electrophoretic pattern of human fibroblast extracts displays three bands (cathode to anode) of hexosaminidase: Hex B, Hex A, Hex C in normal strains, only one B band in Tay-Sachs strains, and only one C band in Sandhoff strains. The author's observations on rodent-Sandhoff cellular hybrids agree with the hypothesis made by others: Hex B = (beta beta)n; Hex A = (alpha beta)n; and Hex B = (alpha alpha) n. The mutation occurred in the alpha chain in Tay-Sachs disease and in the beta chain in Sandhoff disease. When mannose phosphate isomerase (MPI) is present, and therefore Hex C because of the well known MPI - Hex C synteny, a new hexosaminidase band called "Hex A fast" is seen in Sandhoff-hamster hybrids, while a "Hex A like" band is seen in Sandhoff-mouse hybrids. Both bands are absent from parental cells. It is suggested that "Hex A fast" and "Hex A like" are human-rodent hybrid hexosaminidases: "Hex A fast" = (alpha beta')n; "Hex A like" = (alpha beta's)n with the assumption that hamster HB' = (beta' beta')n and mouse Hex B'S = (beta's beta's)n. The specific anti Hex A = anti (alpha beta); the non-specific anti Hex A = anti Hex B = anti (beta); the anti (alpha) would be absent or weak. This explains the reactivity of the anti-Hex A against Hex A and Hex B, but not against Hex C.
人成纤维细胞提取物的电泳图谱显示，正常菌株中己糖胺酶有三条带（从阴极到阳极）：己糖胺酶B、己糖胺酶A、己糖胺酶C；在泰-萨克斯菌株中只有一条B带；在桑德霍夫菌株中只有一条C带。作者对啮齿动物-桑德霍夫细胞杂种的观察结果与其他人提出的假设一致：己糖胺酶B =（ββ）n；己糖胺酶A =（αβ）n；己糖胺酶C =（αα）n。在泰-萨克斯病中，突变发生在α链；在桑德霍夫病中，突变发生在β链。当存在甘露糖磷酸异构酶（MPI）时，由于众所周知的MPI - 己糖胺酶C同线性，因此存在己糖胺酶C，在桑德霍夫-仓鼠杂种中可见一条名为“快速己糖胺酶A”的新己糖胺酶带，而在桑德霍夫-小鼠杂种中可见一条“类己糖胺酶A”带。亲本细胞中均不存在这两条带。有人提出，“快速己糖胺酶A”和“类己糖胺酶A”是人与啮齿动物的杂种己糖胺酶：“快速己糖胺酶A” =（αβ'）n；“类己糖胺酶A” =（αβ's）n，假设仓鼠己糖胺酶B' =（β'β'）n，小鼠己糖胺酶B'S =（β'sβ's）n。特异性抗己糖胺酶A = 抗（αβ）；非特异性抗己糖胺酶A = 抗己糖胺酶B = 抗（β）；抗（α）将不存在或较弱。这解释了抗己糖胺酶A对己糖胺酶A和己糖胺酶B有反应，但对己糖胺酶C无反应的原因。
