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[为诊断某些代谢性疾病而进行羊水细胞培养]

[Cultivation of amniotic fluid cells for the purpose of diagnosing certain metabolic diseases].

作者信息

Zolotukhina T V, Tsvetkova I V

出版信息

Biull Eksp Biol Med. 1980 Mar;89(3):344-6.

PMID:7388145
Abstract

A method for preparing amniotic fluid cell culture has been developed. The optimal conditions for the culture involved the incubation period averaging 17.9 days. Normal activity values were obtained for 8 glycosidases whose deficiency is responsible for the development of hereditary accumulation diseases. The data obtained allow a prenatal diagnosis of glycolipidoses (Tay-Sachs, Fabrys, Gaucher's diseases, etc.). The evidence on prenatal diagnosis of Tay-Sach's disease is presented.

摘要

已经开发出一种制备羊水细胞培养物的方法。培养的最佳条件包括平均潜伏期为17.9天。获得了8种糖苷酶的正常活性值,这些酶的缺乏会导致遗传性蓄积病的发展。所获得的数据允许对糖脂贮积症(泰-萨克斯病、法布里病、高雪氏病等)进行产前诊断。本文提供了泰-萨克斯病产前诊断的证据。

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