Lane A B, Skikne M I, Jenkins T
S Afr Med J. 1976 Sep 18;50(40):1553-5.
Tay-Sachs disease was diagnosed prenatally on the basis of enzyme assays and the electrophoretic pattern of extracts made from cultured amniotic fluid cells. Electrophoresis revealed the presence of hexosaminidase B but no hexosaminidase A, the iso-enzyme which is deficient in Tay-Sachs disease. Estimations of the percentage of hexosaminidase A present in cultured amniotic cell extracts by means of thermal fractionation revealed the presence of only small amounts of this isozyme. Results obtained on amniotic fluid alone were found to be unreliable and were disregarded when making the diagnosis. Following termination of the pregnancy, the diagnosis was confirmed by electrophoresis and the thermal inactivation method as well as by electron microscopy. A slight lower temperature for the thermal inactivation has been found to give better discrimination than the temperature used in previously described techniques.
根据酶分析以及从培养的羊水细胞提取物中获得的电泳图谱，对泰-萨克斯病进行了产前诊断。电泳显示存在己糖胺酶B，但不存在己糖胺酶A，而己糖胺酶A是泰-萨克斯病中缺乏的同工酶。通过热分级法估计培养的羊水细胞提取物中己糖胺酶A的百分比，结果显示仅存在少量这种同工酶。单独对羊水进行检测的结果被发现不可靠，在进行诊断时不予考虑。终止妊娠后，通过电泳、热失活法以及电子显微镜检查证实了诊断。已发现，与先前所述技术中使用的温度相比，略低的热失活温度能提供更好的区分效果。
