[人类神经节苷脂沉积症的遗传异质性研究]
[Study of the genetic heterogeneity of gangliosidoses in humans].
作者信息
Akhunov V S, Aronovich E L, Krasnopol'skaia K D, Mirenburg T V
出版信息
Genetika. 1989 Oct;25(10):1861-71.
PMID:2533574
Abstract
A study of genetic heterogeneity of GM1 and GM2 gangliosidoses was performed using a wide set of cultured fibroblast lines of patients with leukodystrophies. In addition to commonly used methods for enzyme diagnosis and for isozyme fractionating, following assays were developed for locus and allele differentiation: loading tests with 3H-GM1 and 3H-GM2, analytical chromatofocusing and activity determination of activator protein for GM2.
摘要
利用大量脑白质营养不良患者的培养成纤维细胞系，对GM1和GM2神经节苷脂沉积症的遗传异质性进行了研究。除了常用的酶诊断和同工酶分级分离方法外，还开发了以下用于基因座和等位基因区分的检测方法：用3H-GM1和3H-GM2进行负荷试验、分析性色谱聚焦以及GM2激活蛋白的活性测定。
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[Study of the genetic heterogeneity of gangliosidoses in humans].[人类神经节苷脂沉积症的遗传异质性研究]
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