利用热不稳定β-己糖胺酶B进行泰-萨克斯病的产前诊断。
Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
作者信息
Momoi T, Kikuchi K, Shigematsu Y, Sudo M, Tanioka K
出版信息
Clin Chim Acta. 1983 Oct 14;133(3):331-4. doi: 10.1016/0009-8981(83)90279-6.
PMID:6226459
Abstract
Two consecutive pregnancies at risk for Tay-Sachs disease with heat-labile beta-hexosaminidase B were monitored. Differential isozyme detection of beta-hexosaminidase in cell free amniotic fluid by DEAE cellulose column chromatography and cellulose acetate paper electrophoresis showed an affected fetus in the first pregnancy and an unaffected in the second. These results were confirmed in the aborted fetus and in a newborn baby, respectively.
摘要
对两例连续妊娠且胎儿有患泰-萨克斯病风险、β-己糖胺酶B耐热性不稳定的孕妇进行了监测。通过DEAE纤维素柱色谱法和醋酸纤维素纸电泳对游离羊水β-己糖胺酶进行同工酶差异检测，结果显示第一次妊娠的胎儿患病，第二次妊娠的胎儿未患病。这些结果分别在流产胎儿和一名新生儿中得到了证实。
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