Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G
Istituto di Genetica Molecolare del CNR, Trieste, Italy.
Am J Med Genet. 1995 Nov 6;59(2):143-8. doi: 10.1002/ajmg.1320590205.
We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus.
我们报告了一个撒丁岛的家系，该家系患有先天性鱼鳞病，其类固醇硫酸酯酶水平正常且分子模式正常，这可通过类固醇硫酸酯酶（STS）基因的cDNA探针检测到。尽管该疾病的遗传模式与X连锁隐性遗传一致，但发现这种鱼鳞病形式与位于Xp22.3区域（STS基因座已定位在此处）的探针检测到的遗传多态性独立分离。迄今为止，在整个X染色体上寻找与其他多态性标记的紧密遗传连锁一直没有结果。目前，从这些数据得出的主要结论是，STS缺乏并非X连锁鱼鳞病的必要条件，X连锁鱼鳞病也可能由与STS基因座在遗传上不连锁的X染色体位点的突变事件引起。
