一个家系中两名健康成员出现明显的己糖胺酶B缺乏症。
Apparent hexosaminidase B deficiency in two healthy members of a pedigree.
作者信息
Hechtman P, Rowlands A
出版信息
Am J Hum Genet. 1979 Jul;31(4):428-38.
Abstract
A family is described in which all members have decreased serum and leukocyte hexosaminidase activity. Two individuals, the mother and the younger daughter, have a normal ratio of hexosaminidase B (HEX B) to total hexosaminidase, but their serum enzymes display respectively partial or complete lability to heat. It is proposed that the proband is a double heterozygote for the Sandhoff allele and for an allele producing thermolabile beta subunits.
摘要
本文描述了一个家族，该家族所有成员的血清和白细胞己糖胺酶活性均降低。有两个个体，即母亲和小女儿，其己糖胺酶B（HEX B）与总己糖胺酶的比例正常，但她们的血清酶分别对热表现出部分或完全不稳定性。据推测，先证者是Sandhoff等位基因和产生热不稳定β亚基的等位基因的双重杂合子。
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Studies on glucosaminidase. 4. The fluorimetric assay of N-acetyl-beta-glucosaminidase.氨基葡萄糖苷酶的研究。4. N-乙酰-β-氨基葡萄糖苷酶的荧光测定法。
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