Beyer E M
Prenat Diagn. 1984 Jan-Feb;4(1):43-9. doi: 10.1002/pd.1970040107.
It was shown that activities and isoenzyme patterns of alpha-L-fucosidase and hexosaminidase were similar in biopsy specimens of chorion obtained immediately before induced abortion in normal pregnancy and in chorion tissue itself. A comparative study of isoenzyme patterns of these glycosidases showed their similarity in chorion and human fetal kidney, liver and lungs. The data obtained may be applied to the investigation of the multiple forms of alpha-L-fucosidase and hexosaminidase in chorion biopsy specimens for the prenatal diagnosis of fucosidosis (alpha-L-fucosidase deficiency), Tay-Sachs diseases (hexosaminidase A deficiency) and Sandhoff disease (deficiency of hexosaminidase A and B).
结果表明，在正常妊娠人工流产前立即获取的绒毛活检标本以及绒毛组织本身中，α-L-岩藻糖苷酶和己糖胺酶的活性及同工酶谱相似。对这些糖苷酶同工酶谱的比较研究表明，它们在绒毛与人胎儿肾脏、肝脏和肺中相似。所获得的数据可用于研究绒毛活检标本中α-L-岩藻糖苷酶和己糖胺酶的多种形式，以用于岩藻糖苷贮积症（α-L-岩藻糖苷酶缺乏）、泰-萨克斯病（己糖胺酶A缺乏）和桑德霍夫病（己糖胺酶A和B缺乏）的产前诊断。
