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通过羊水糖胺聚糖的连续单维电泳进行黏多糖贮积症的产前诊断。

Prenatal diagnosis of mucopolysaccharidosis by continuous, monodimensional electrophoresis of amniotic fluid glycosaminoglycans.

作者信息

Sun N H, Wang F Y, Wu Y C, Ning Y

机构信息

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing.

出版信息

Chin Med J (Engl). 1991 Dec;104(12):1022-4.

PMID:1782812
Abstract

A continuous dimensional electrophoretic method was used in 15 urine samples of clinically diagnosed mucopolysaccharidoses I or IV. Twelve of the 15 were glycosaminoglycans band positive. Of the 12 one was KS band positive but methyl toluidine blue test was negative. The other 11 were positive with both methods. Prenatal diagnosis was done in 10 cases during their next pregnancy with the same method on the amniotic fluid. Two affected fetuses were diagnosed and proved, one after induced abortion and the other after full-term delivery.

摘要

采用连续维度电泳法对15份临床诊断为黏多糖贮积症I型或IV型的尿液样本进行检测。15份样本中有12份糖胺聚糖带呈阳性。这12份样本中,有1份KS带呈阳性,但甲苯胺蓝试验为阴性。其他11份样本两种方法检测均为阳性。对其中10例患者下次妊娠时的羊水采用相同方法进行产前诊断。诊断出2例患病胎儿并得到证实,1例在人工流产后确诊,另1例在足月分娩后确诊。

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