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[利用绒毛膜绒毛进行甘露糖苷贮积症的产前诊断]

[Prenatal diagnosis of mannosidosis using chorion villi].

作者信息

Petushkova N A, Tsvetkova I V, Fuks M A, Doronin G L, Iakubovich D V

出版信息

Vopr Med Khim. 1987 Jul-Aug;33(4):99-101.

PMID:2958965
Abstract

The prenatal diagnosis of mannosidosis was carried out in one at-risk fetus by the analysis of chorionic villi obtained after 9 weeks of pregnancy. The diagnosis was based on the absence of acid alpha-mannosidase activity as determined by specific enzyme assay. The activity of two other lysosomal hydrolases (beta-galactosidase and beta-hexosaminidase) in chorion biopsy specimen was similar to the control values. The enzymatic diagnosis was confirmed after studies of fetal tissue.

摘要

通过对妊娠9周后获取的绒毛膜绒毛进行分析,对一名有患病风险的胎儿进行了甘露糖苷贮积症的产前诊断。诊断依据是通过特定酶测定法确定缺乏酸性α-甘露糖苷酶活性。绒毛活检标本中另外两种溶酶体水解酶(β-半乳糖苷酶和β-己糖胺酶)的活性与对照值相似。对胎儿组织进行研究后证实了酶学诊断。

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