Hechtman P, Rowlands A
Am J Hum Genet. 1979 Jul;31(4):428-38.
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.
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。
