一种用于莱施-奈恩综合征产前诊断的快速微量方法。

A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome.

作者信息

Singh S, Willers I, Goedde H W

出版信息

Clin Genet. 1976 Jul;10(1):12-5. doi: 10.1111/j.1399-0004.1976.tb00002.x.

DOI:10.1111/j.1399-0004.1976.tb00002.x

Abstract

A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7-10 days. The procedure is based on the direct cultivation of amniotic cells in microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to 10,000 cells, and is followed by separation of the radioactive reaction products by means of microchromatography on 3 cm x 5 cm PEI plates. This method permits determination of the actual HGPRT enzyme activity of the cell lines.

摘要

本文描述了一种方法，该方法能够在7至10天内对莱施-奈恩综合征（次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症）进行产前诊断。该程序基于在微量试验II板中直接培养羊膜细胞；次黄嘌呤-鸟嘌呤磷酸核糖转移酶反应在含有500至10,000个细胞的单个孔中进行，随后通过在3厘米×5厘米的聚乙烯亚胺板上进行微色谱法分离放射性反应产物。该方法可以测定细胞系的实际次黄嘌呤-鸟嘌呤磷酸核糖转移酶活性。