孕早期绒毛高雪氏病产前诊断法  

Method of First Trimester Prenatal Diagnosis of Gauchers Disease

作　　者：王和[1] 刘珊玲[1] 刘之英 张迅 赵小文[1] VanDiggelenOP 

机构地区：[1]华西医科大学附属第二医院,四川成都610041 [2]荷兰鹿特丹Erasmus大学医学遗传学系

出　　处：《实用妇产科杂志》2000年第1期18-20,共3页Journal of Practical Obstetrics and Gynecology

基　　金：四川省计划生育委员会科研基金

摘　　要：目的:采用荧光酶学手段,建立一种测定绒毛β-葡萄糖苷酶活性的方法。方法:分析β-葡萄糖苷酶的酶动力学特性,并检测36例正常胎盘绒毛组织及高雪氏病胎儿绒毛酶活性。结果:正常胎盘绒毛组织酶活性均数为776.3,标准差为190.5;高雪氏病胎儿绒毛酶活性为0。结论:该法可成为孕早期高雪氏病产前诊断的简单。Object:A fluorogenic substrate,4 methylumbelliferyl β-D-glucopyranoside,was used for the assay of β-glucosidase in chorionic villi.Methods:The kinetic properties of β-glucosidase were analyzed.Results:The ranges of enzyme activity were established for the villi.The mean of this enzyme activity is 776.3 nmol/1h/mg;the standard deviation is 190.5.There is not the enzyme activity of the villi from a Gauchers disease fetus.Conclusion:This simple fluorometric assay provides a reliable and quick method for early prenatal diagnosis of Gauchers disease.

关 键 词：高雪氏病 孕早期 产前诊断 荧光酶法 

分 类 号：R714.55[医药卫生—妇产科学]