中国人的溶酶体酶活性：白细胞α-半乳糖苷酶和β-半乳糖苷酶

Lysosomal enzyme activities among Chinese: leukocyte alpha-galactosidase and beta-galactosidase.

作者信息

Xu Y K, Ng W G

机构信息

Department of Pediatrics, University of Southern California School of Medicine, Los Angeles.

出版信息

Hum Hered. 1988;38(2):76-82. doi: 10.1159/000153762.

DOI:10.1159/000153762

PMID:2837434

Abstract

alpha-Galactosidase and beta-galactosidase activities have been determined in leukocyte preparations from 100 randomly selected Chinese adults. For alpha-galactosidase, two groups with low activities were identified: group I consisted of 3 females having activities below 40% of normal, and group II consisted of 5 males and 1 female with activities about 60% of normal. Family studies suggested that these low alpha-galactosidase activities are genetically determined. Only 1 individual was found to have about 50% of normal beta-galactosidase activity; presumably he is a carrier for beta-galactosidase deficiency (GM1 gangliosidosis).

摘要

已对100名随机选取的中国成年人白细胞制剂中的α-半乳糖苷酶和β-半乳糖苷酶活性进行了测定。对于α-半乳糖苷酶，鉴定出两组活性较低的人群：第一组由3名女性组成，其活性低于正常水平的40%；第二组由5名男性和1名女性组成，其活性约为正常水平的60%。家系研究表明，这些低α-半乳糖苷酶活性是由遗传决定的。仅发现1人具有约50%的正常β-半乳糖苷酶活性；推测他是β-半乳糖苷酶缺乏症（GM1神经节苷脂贮积症）的携带者。