肾上腺脑白质营养不良（西默林 - 克罗伊茨费尔特病）：具有两个克隆成纤维细胞群体的杂合子。
Adrenoleukodystrophy (Siemerling-creutzfeldt disease): Heterozygote with two clonal fibroblast populations.
作者信息
Ropers H H, Zimmermann J, Wienker T
出版信息
Clin Genet. 1977 Feb;11(2):114-8. doi: 10.1111/j.1399-0004.1977.tb01287.x.
On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling-Creutzfeldt disease. Futhermore, they suggest that the SCD locus is subject to lyonization.
在传代培养后的第五天，两名患有肾上腺脑白质营养不良（西默林 - 克罗伊茨费尔特病（SCD））的无关患者的成纤维细胞出现了典型的形态学异常，通过光学显微镜可以观察到。从一名必然是杂合子的女性的皮肤活检材料中，既分离出了正常的菌落，也分离出了形态有缺陷的菌落。这些发现表明形态学改变是西默林 - 克罗伊茨费尔特病缺陷的一种表现。此外，它们表明SCD基因座会发生X染色体随机失活。
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