一名成年人的β-半乳糖苷酶缺乏症：关于GM1神经节苷脂贮积症一种变异型的生化及体细胞遗传学研究
beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis.
作者信息
Koster J F, Niermeijer M F, Loonen M C, Gajaard H
出版信息
Clin Genet. 1976 Apr;9(4):427-32. doi: 10.1111/j.1399-0004.1976.tb02272.x.
Abstract
Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1-gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.
摘要
本文呈现了一名29岁男性的生化数据，该男性表现出进行性精神运动发育迟缓，白细胞和培养的皮肤成纤维细胞中存在β-半乳糖苷酶缺乏。体细胞杂交研究表明，这种GM1神经节苷脂贮积症变体基于与1型和2型不同的基因突变。在与3型变体细胞的融合实验中未观察到互补现象。
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