培养的皮肤成纤维细胞和羊水细胞中酸性水解酶活性的变异性。
Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.
作者信息
Young E, Willcox P, Whitfield A E, Patrick A D
出版信息
J Med Genet. 1975 Sep;12(3):224-9. doi: 10.1136/jmg.12.3.224.
Abstract
The specific activities of lysosomal hydrolases in cultured skin fibroblasts and amniotic fluid cells showed wide and unpredictable variations between cultures, which may lead to difficulty in differentiating normal, heterozygous, and homozygous cells. However, the variability for a given culture was similar for all enzymes assayed, so that a clearer differentiation of a relative deficiency of a given enzyme could be obtained by expressing its activity in ratio to that of another enzyme. Activity ratios were particularly useful in the evaluation of enzyme levels in cultured amniotic fluid cells. Results of their application to tests of pregnancies at risk for metachromatic leucodystrophy, Krabbe's leucodystrophy, GM1-gangliosidosis, and GM2-gangliosidosis (Sandhoff variant) are presented.
摘要
培养的皮肤成纤维细胞和羊水细胞中溶酶体水解酶的比活性在不同培养物之间表现出广泛且不可预测的差异，这可能导致区分正常、杂合和纯合细胞存在困难。然而，对于给定的培养物，所检测的所有酶的变异性相似，因此通过将一种酶的活性与另一种酶的活性进行比值表达，可以更清楚地区分给定酶的相对缺乏情况。活性比值在评估培养的羊水细胞中的酶水平时特别有用。本文介绍了其在对患异染性脑白质营养不良、克拉伯病、GM1神经节苷脂贮积症和GM2神经节苷脂贮积症（桑德霍夫变异型）风险妊娠进行检测中的应用结果。
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