TAY-SACHS DISEASE - GENERALIZED ABSENCE OF A BETA-D-N-ACEYLHEXOSAMINIDASE COMPONENT

被引：703

作者：

OKADA, S

OBRIEN, JS

机构：

[1] Department of Neurosciences, School of Medicine, University of California at San Diego, San Diego

来源：

SCIENCE | 1969年 / 165卷 / 3894期

关键词：

D O I：

10.1126/science.165.3894.698

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosaminidase and β-D-N- acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease.

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页码：698 / &

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