电子显微镜在遗传病产前诊断中的应用。

Utilization of electron microscopy in the prenatal diagnosis of genetic disease.

作者信息

Wyatt P R, Cox D M

出版信息

Hum Hered. 1977;27(1):22-37. doi: 10.1159/000152849.

Abstract

The use of electron microscopy as a further method of diagnosis of disease in cultured skin fibroblasts and cultured amniotic fluid fibroblasts is presented. It was demonstrated that Tay-Sachs disease, Fabry's disease, and metachromatic leukodystrophy had distinctive abnormalities in both cultured skin fibroblasts and cultured amniotic fluid fibroblasts. It was shown that control of culturing conditions made it possible to distinguish normal cell lines from certain cell lines carrying known genetic diseases.

摘要

本文介绍了将电子显微镜作为诊断培养的皮肤成纤维细胞和羊水成纤维细胞疾病的另一种方法。结果表明，泰-萨克斯病、法布里病和异染性脑白质营养不良在培养的皮肤成纤维细胞和羊水成纤维细胞中均有明显异常。研究表明，通过控制培养条件，可以将正常细胞系与某些携带已知遗传疾病的细胞系区分开来。