使用显色底物鉴别AB型GM2神经节苷脂沉积症的两种变体。
Differentiation of two variants of type-AB GM2-gangliosidosis using chromogenic substrates.
作者信息
Li Y T, Hirabayashi Y, Li S C
出版信息
Am J Hum Genet. 1983 May;35(3):520-2.
Abstract
Two variants of type-ABGM2-gangliosidosis can be distinguished by using p-nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside (PNP-GlcNAc-6-SO4) as substrate. One of the variants is caused by a deficiency of the activator for the hydrolysis of GM2-ganglioside. The beta-hexosaminidase A from this variant has a normal activity toward both PNP-GlcNAc and PNP-GlcNAc-6-SO4. A second variant caused by a defect in the enzyme, beta-hexosaminidase A, exhibits severely attenuated activity toward PNP-GlcNAc-6-SO4 but normal activity toward PNP-GlcNAc.
摘要
通过使用对硝基苯基-6-磺基-2-乙酰氨基-2-脱氧-β-D-吡喃葡萄糖苷（PNP-GlcNAc-6-SO4）作为底物，可以区分ABGM2-神经节苷脂沉积症的两种变体。其中一种变体是由于GM2-神经节苷脂水解激活剂的缺乏引起的。来自该变体的β-己糖胺酶A对PNP-GlcNAc和PNP-GlcNAc-6-SO4均具有正常活性。由酶β-己糖胺酶A缺陷引起的第二种变体对PNP-GlcNAc-6-SO4表现出严重减弱的活性，但对PNP-GlcNAc具有正常活性。
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本文引用的文献
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