Krause A, Lane A B, Jenkins T
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
J Med Genet. 1988 Oct;25(10):677-81. doi: 10.1136/jmg.25.10.677.
A South African Afrikaans speaking family is reported in which a new high activity plasma cholinesterase variant was found to occur in the mother and son. The variant has the same electrophoretic mobility as the "usual' enzyme, but greater heat stability. Its higher specific activity is associated with a normal number of enzyme molecules. The variant may be inherited as a dominant trait, though its locus is uncertain.
据报道,有一个说南非荷兰语的家庭,在其母亲和儿子身上发现了一种新的高活性血浆胆碱酯酶变体。该变体与“普通”酶具有相同的电泳迁移率,但热稳定性更高。其较高的比活性与正常数量的酶分子相关。该变体可能作为显性性状遗传,但其基因座尚不确定。