Fensom A H, Benson P F
Clin Chim Acta. 1975 Jul 23;62(2):189-94. doi: 10.1016/0009-8981(75)90227-2.
We report studies designed to establish optimal conditions for the assay of amniotic cell galactose 1-phosphate uridyl transferase (Gal-PUT) for early prenatal diagnosis of galactosaemia. Methods based on linkage of the reaction to cause of non-specific reactions occurring even in the absence of Gal-1-P. In the final method, sonicates of confluent cultures are incubated with (14-C) Gal-1-P is degraded by treatment with alkaline phosphatase. Gal-PUT specific activities of both control and galactosaemic amniotic cells are higher in non-confluent that confluent cultures.
我们报告了旨在为羊膜细胞半乳糖-1-磷酸尿苷酰转移酶（Gal-PUT）检测建立最佳条件的研究，用于半乳糖血症的早期产前诊断。基于该反应的方法会导致即使在没有Gal-1-P的情况下也会发生非特异性反应。在最终方法中，将汇合培养物的超声裂解物与（14-C）Gal-1-P一起孵育，然后用碱性磷酸酶处理使其降解。对照和半乳糖血症羊膜细胞的Gal-PUT比活性在未汇合培养物中高于汇合培养物。
