论文部分内容阅读
在缺乏囊性纤维化(CF)主要分子病理学知识时,所推荐的任何一种宫内诊断的方法可能是基于次要特征,而且凭经验的方法可以有效也可无效。已推荐许多细胞和生化试验-被培养的羊水细胞的变色反应性,碱性磷酸酶的诱导性,线粒体NADH脱氢酶异常以及对于底物甲基7-羟香豆素苯基胍乙基磷酸丝氨酰盐(methylumbelliferl-guanidinohenzoate)的胰蛋白酶样活性的滴定。目前阶段开始应用两种微绒毛肽酶活性的观察。1983年Carbarns等从受CF影响的胎儿的一些羊水上清液中发现γ-谷氨酰转肽酶和氨基苯肽酶M减少。此发现很快在其它实验室得到证实。同年Diggelen等观察到在一些受影响的胎儿羊水中双糖酶水平也减少。最后1983年作者报告了如果羊水碱性磷酸酶
In the absence of knowledge of the major molecular pathologies of cystic fibrosis (CF), any of the recommended methods of intrauterine diagnosis may be based on secondary characteristics and may be validated or invalidated empirically. A number of cellular and biochemical assays have been recommended - chromogenic reactivity of cultured amniocytes, induction of alkaline phosphatase, mitochondrial NADH dehydrogenase anomalies, and effects on the substrate methyl 7-hydroxycoumarin phenylguanidine ethylphosphate Trypsin-like activity titration of methylumbelliferl-guanidinohenzoate. The current stage of the application of two microvilli peptidase activity observation. In 1983, Carbarns et al. Found a decrease in γ-glutamyl transpeptidase and aminopeptidase M in some amniotic fluid supernatants from CF-affected fetuses. This finding was quickly confirmed in other laboratories. In the same year, Diggelen et al. Observed that the level of disaccharidase in some affected fetal amniotic fluid also decreased. Finally, the authors reported in 1983 if amniotic fluid alkaline phosphatase