两种血浆壳三糖酶活性测定底物的比较.docVIP

 两种血浆壳三糖酶活性测定底物的比较# 王瑜1,2，张惠文1,2** （1. 上海交通大学医学院附属新华医院，上海 200092； 5 10 15 20 25 30 35 40 2. 上海市儿科医学研究所，上海 200092） 摘要：比较两种血浆壳三糖酶底物的测定结果，及其应用于临床肝脾增大患者的辅助诊断效 果。方法 收集 87 例正常人、戈谢病患者及尼曼匹克病 A/B 型患者的血浆，分别使用底物 4-methylumbelliferyl-β-D-N,N’,N”-triacetyl-chitotrioside (4MU-C3) 和 4-Methylumbelliferyl 4-Deoxy-β-D-chitobiose（4MU-4dC2）测定血浆壳三糖酶（Chitotriosidase，CT）活性，并对 研究对象进行了壳三糖酶基因 24 个碱基对重复序列突变（dup24）检测。结果 使用底物 4MU-4dC2 的测定值比 4MU-C3 高。dup24 纯和突变型对象壳三糖酶缺失；dup24 野生突变 型及杂合突变型对象中，戈谢病患者血浆 CT 值显著升高。结论 CT 对戈谢病和尼曼匹克病 具有辅助诊断价值。使用 4MU-4dC2 作为检测底物可使戈谢病患者的实验室监测更为敏感。 关键词：壳三糖酶；戈谢病；尼曼匹克病 中图分类号：R725 Comparision of two different substrates of Enzyme assay for CT Wang Yu1,2, Zhang Huiwen1,2 (1. Xinhua Hospital affiliated to Shanghai Jiaotong University Medical School, Shanghai 200092, China; 2. Shanghai Institute for Pediatric Research, Shanghai 200092, China) Abstract: The aim of the study is to compare Chitotriosidase (CT) activity assay using two different substrates, 4-methylumbelliferyl-β-D-N,N’,N”-triacetyl-chitotrioside(4MU-C3) and 4-Methylumbelliferyl 4-Deoxy-β-D-chitobiose(4MU-4dC2). Plasma of 87 healthy individuals was collected with informed approval. Plasma CT activity was measured for all individuals simutanenously using both substrates, 4MU-C3 and 4MU-4dC2. The most common mutationof CHIT1 gene, dup24, were also determined to check the consistence of genotype with enzyme activity .Result With 4MU-4dC2 as substrate, CT activity usually gave higher values than 4MU-C3. Among GD patients with wild-type or heterozygous subjects of dup24 mutation,CT activity was highly increased.A less remarkable increase in CT activity was observed in NPD patients type A/B. Plasma CT activity levels are critical biomarker in clinical diagnosis of patients not only with GD but also with NPD. Key words: Chitotriosidase; Gaucher disease; Niemann–Pick disease 0 引言 戈谢病（Gaucher disease，GD）是一种常见的溶酶体贮积病，主要是由于人体细胞中的 溶酶体内缺乏酸性葡萄糖脑苷脂酶，导致其底物葡萄糖脑苷脂无法代谢，贮积在溶酶体内， 形成戈谢细胞，主要影响肝、脾、骨髓及神经系统。戈谢病临床表现多样，传统的分为 3