酯酶D活性测定及其在肝豆状核变性中的意义

THE DETERMINATION OF EsD ACTIVITY AND ITS APPLICATION IN RESEARCH ON HEPATOLENTICULAR DEGENERATION

用荧光分光光度法对28例正常人外周血红细胞的酯酶D(EsD)活性进行了检测,其平均每小时活性为48.61±18.67mol/gHb;男女间无显著性差异;三种不同的EsD表型的酶活性则各不相同,其中1-1型最高,2-2型最低,2-1型则介于两者之间。对3个肝豆状核变性(HLD)家系的研究表明:HLD疾病基因的存在对EsD的活性有明显影响,具体表现为HLD患者和杂合子的酶活性均高于正常对照,而HLD基因的这种影响与EsD的表型类型无关。这一结果将有益于HLD发病机制的更进一步探讨。

Esterase D (EsD) activity in red blood cells was analysed by means of fluorescence assay. The average EsD activity in 28 cases of normal persons was 48.61±18.67 mol/g Hb·h-1. There were significant differences among the activities of three types of EsD 1-1, 2-1, and 2-2, but no difference between those of males and females. In research of EsD activity in 3 families of HLD, both homozygotic or heterozygotic patients may, show elevated EsD activity of all types. These results will help further researth on pathogenesis of HLD.