利用微技术检测溶酶体酶紊乱：泰-萨克斯病、GM1神经节苷脂贮积症和法布里病。

Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease.

作者信息

Bladon M T, Milunsky A

出版信息

Clin Genet. 1978 Dec;14(6):359-66. doi: 10.1111/j.1399-0004.1978.tb02102.x.

DOI:10.1111/j.1399-0004.1978.tb02102.x

Abstract

A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay-Sachs, GM1-gangliosidosis and Fabry disease) is presented. This microassay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay-Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed.

摘要

本文呈现了一项关于使用微技术检测三种溶酶体贮积病（泰-萨克斯病、GM1神经节苷脂贮积症和法布里病）的初步报告。这种微量测定方法使用100到300个培养的羊水细胞或皮肤成纤维细胞。文中给出了己糖胺酶（针对泰-萨克斯病）的总活性值与热灭活形式的值之间的比较。讨论了这种微技术在产前诊断中应用的可行性。