关于人胎盘和成纤维细胞中类固醇硫酸酯酶基因座未失活的生化证据。

Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts.

作者信息

Bedin M, Weil D, Fournier T, Cedard L, Frezal J

出版信息

Hum Genet. 1981;59(3):256-8. doi: 10.1007/BF00283675.

Abstract

Steroid sulfatase activities are significantly higher in placentas obtained after the birth of girls than after the birth of boys, and also in female fibroblasts compared to male strains. This constitutes biochemical evidence for the non-inactivation of the X-linked sulfatase locus. No hydrolytic activity is found in the fibroblasts of ichthyotic boys. Heterozygosity is demonstrated in the fibroblasts of the four mothers studied, as they have steroid sulfatase activity of less or equivalent to the normal male value.

摘要

在女孩出生后获得的胎盘组织中，类固醇硫酸酯酶活性显著高于男孩出生后的胎盘组织；与雄性细胞株相比，雌性成纤维细胞中的该酶活性也更高。这构成了X连锁硫酸酯酶基因座未失活的生化证据。在鱼鳞癣男孩的成纤维细胞中未发现水解活性。在所研究的四位母亲的成纤维细胞中证实了杂合性，因为她们的类固醇硫酸酯酶活性低于或等同于正常男性水平。