X连锁鱼鳞病（类固醇硫酸酯酶缺乏症）的连锁分析
Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).
作者信息
Wirth B, Herrmann F H, Neugebauer M, Gillard E F, Wulff K, Stein C, von Figura K, Ferguson-Smith M A, Gal A
机构信息
Institut für Humangenetik der Universität, Bonn, Federal Republic of Germany.
出版信息
Hum Genet. 1988 Oct;80(2):191-2. doi: 10.1007/BF00702868.
Linkage analysis has been carried out in nine unrelated families segregating for X-linked ichthyosis (steroid sulfatase deficiency) using seven polymorphic DNA markers from the distal Xp. Close linkage was found between the disease locus and the loci DXS16, DXS89, and DXS143. In all families except one, Southern hybridization with the human steroid sulfatase cDNA and GMGX9 probes showed a deletion of corresponding loci in affected males. Three patients belonging to the same family had no evident deletion with either of the two above-mentioned probes. None of the other six DNA loci included in the linkage analysis were found to be deleted.
利用来自Xp远端的7个多态性DNA标记，对9个与X连锁鱼鳞病（类固醇硫酸酯酶缺乏症）相关的无关家系进行了连锁分析。发现疾病基因座与DXS16、DXS89和DXS143基因座紧密连锁。在除一个家系外的所有家系中，用人类类固醇硫酸酯酶cDNA和GMGX9探针进行Southern杂交，结果显示患病男性中相应基因座存在缺失。来自同一家系的3名患者用上述两种探针均未发现明显缺失。连锁分析中包含的其他6个DNA基因座均未发现缺失。
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