Lane A B, Jenkins T
Clin Chim Acta. 1978 Jul 15;87(2):219-28. doi: 10.1016/0009-8981(78)90341-8.
A family is described in which alleles for two different hexosaminidase beta-chain variants are segregating. When they co-exist in the same individual Sandhoff disease results. In the heterozygous state one of the variant alleles results in the production of an unstable Hex B and a Hex A with an altered Km for the substrate 4-MU-acetamido-2-deoxy-beta-D-galactopyranoside. The other allele when heterozygous with a normal allele does not produce unstable isozymes with altered kinetics. Like many rare recessive diseases the affected children in this family would appear to have been compound heterozygotes and not true homozygotes.
描述了一个家系，其中两种不同的己糖胺酶β链变体的等位基因正在分离。当它们在同一个体中共存时会导致Sandhoff病。在杂合状态下，其中一个变体等位基因导致产生不稳定的Hex B和对底物4-甲基伞形酮乙酰氨基-2-脱氧-β-D-吡喃半乳糖苷具有改变的Km值的Hex A。另一个等位基因与正常等位基因杂合时不会产生动力学改变的不稳定同工酶。与许多罕见的隐性疾病一样，这个家系中受影响的儿童似乎是复合杂合子而非真正的纯合子。
