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泰萨二氏(Tay-Sachs)病是一种神经退行性疾病,由溶酶体酶-氨基己糖酶A(Hex A)缺乏引起。根据血清和组织中的Hex A水平可对本病和杂合状做出诊断。分析组织中的Hex A活性可应用一种新的人工合成底物-4-甲基伞形基-6-硫基-2-乙酰氨基 -2-脱氧β-D-吡喃葡糖苷(4-Methylumbelliferyl-6-Sulpho-2-Acetamido-2-Deoxy-β-D-Glucopyranoside,4MUGlcNAc-6-So_4)进行,且较容易。作者首次报告用4MUGlcNAc-6-S0_4检测绒毛中的Hex A,使得这种新方法进一步应用到产前诊断。本文利用简便的酶定量测定法和快速新的酶定性测定法,可使正常绒毛组织与受累组织相区别。
Tay-Sachs disease is a neurodegenerative disease caused by a deficiency of the lysosomal enzyme, Hex A. The disease and heterozygous diagnosis can be based on the level of Hex A in serum and tissue. Analysis of Hex A Activity in Tissue A novel synthetic substrate, 4- Methylumbelliferyl-6-thio-2-acetylamino-2-deoxy β-D-glucopyranoside (4- Methylumbelliferyl-6-Sulpho-2-Acetamido-2-Deoxy-β-D-Glucopyranoside, 4MUGlcNAc-6-So_4) and is easier. The authors first report that detecting Hex A in chorion with 4MUGlcNAc-6-S0_4 makes this new method a further application to prenatal diagnosis. In this paper, a simple enzymatic quantitative assay and a rapid new enzyme assay can differentiate normal villous tissue from affected tissue.