PRENATAL DIAGNOSIS OF TAY-SACHS DISEASE - STUDIES ON THE RELIABILITY OF HEXOSAMINIDASE LEVELS IN AMNIOTIC-FLUID

被引：7

作者：

GREBNER, EE

JACKSON, LG

机构：

[1] Division of Medical Genetics, Department of Medicine, Thomas Jefferson University Philadelphia, PA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 1979年 / 134卷 / 05期

关键词：

D O I：

10.1016/0002-9378(79)90838-X

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Measurement of hexosaminidase A activity in amniotic fluid was found to be a reliable diagnostic test in the prenatal diagnosis of Tay-Sachs disease. Including normal control specimens, analysis of 39 amniotic fluid samples have correctly predicted the condition of the fetus or, in pregnancies not yet come to term, have been in agreement with results from cultured cell extracts. In each case where both fluid and cultured cell extracts were analyzed, the results were in agreement. Analyses were performed by means of Cellogel, starch gel electrophoresis, polyacrylamide gel electrophoresis, or heat inactivation. © 1979.

引用

页码：547 / 550

页数：4

共 9 条

[1] IDENTIFICATION OF TAY-SACHS DISEASE CARRIERS BY ACRYLAMIDE GEL ELECTROPHORESIS [J].