Novelli G, Mannello F, Pierotti C, Antonelli M, Dallapiccola B
Department of Genetics, University of Urbino, Roma, Italy.
J Lab Clin Med. 1988 Aug;112(2):201-7.
Amniotic fluid analysis of microvillar enzymes, including alkaline phosphatase (ALP) total activity and ALP isoenzymes, has been widely experimented with and used for the prenatal diagnosis of cystic fibrosis in the second trimester of gestation. Since the development of cystic fibrosis molecular analysis, interest in these biochemical tests has been maintained for those instances in which the pregnancy is not fully informative by restriction fragment length polymorphism analysis or DNA is not available from the index-affected child. However, recommended biochemical protocols do not provide clear-cut diagnostic results in a minority of cases. We have tested the reliability of cystic fibrosis biochemical prediction by ALP high-resolution electrophoresis and ALP kinetic studies after inactivation by urea. With this approach, all the amniotic fluid samples that had not been unambiguously classified as affected or unaffected by standard microvillar enzymes analysis were definitely categorized. The proposed method seems to improve the diagnostic accuracy in pregnancies with a one in four risk of resulting in a child with cystic fibrosis.
对包括碱性磷酸酶（ALP）总活性和ALP同工酶在内的微绒毛酶进行羊水分析，已被广泛用于妊娠中期囊性纤维化的产前诊断实验及应用。自囊性纤维化分子分析技术发展以来，对于那些通过限制性片段长度多态性分析无法充分获取妊娠信息或无法从患病索引儿童获取DNA的情况，人们仍对这些生化检测保持兴趣。然而，在少数情况下，推荐的生化检测方案并不能提供明确的诊断结果。我们通过ALP高分辨率电泳和尿素灭活后的ALP动力学研究，测试了囊性纤维化生化预测的可靠性。通过这种方法，所有那些未通过标准微绒毛酶分析明确分类为患病或未患病的羊水样本都得到了明确归类。对于生育患有囊性纤维化患儿风险为四分之一的妊娠，所提出的方法似乎提高了诊断准确性。
