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X连锁鱼鳞病与多种硫酸酯酶缺乏症体细胞杂交后类固醇硫酸酯酶的基因互补

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

作者信息

Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G

出版信息

Hum Genet. 1985;70(4):315-7. doi: 10.1007/BF00295367.

Abstract

Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the unfused cocultivated cells. The occurrence of complementation further supports the hypothesis that at least two different loci control the expression of steroid sulphatase in the human genome.

摘要

在来自患有X连锁鱼鳞病和多种硫酸酯酶缺乏症患者的成纤维细胞异核体群体中进行了类固醇硫酸酯酶的互补研究。融合细胞群体的类固醇硫酸酯酶活性始终高于未融合的共培养细胞(约2-5倍)。互补现象的出现进一步支持了以下假设:至少有两个不同的基因座控制着人类基因组中类固醇硫酸酯酶的表达。

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