两X-性连遗传鱼鳞病家系类固醇硫酸酯酶基因研究

目的研究X性连锁遗传鱼鳞病（XLI）家系基因突变，探讨基因突变与临床表现的关系，为进一步开展基因诊断和基因治疗奠定基础。方法抽取不同地区两个家系中患者、正常人及与这些家系无关的50例正常人的外周血，提取外周血基因组DNA。应用PCR方法扩增外周血基因组DNA类固醇硫酸酯酶（STS）基因的第1、2和10外显子。结果两个家系中的患者STS基因均部分缺失。既仅有第1外显子。而无其他外显子。家系中正常人和与该家系无关的50例正常人未发现这种缺失。结论该两XLI家系存在STS基因部分缺失，该缺失引发出XLI特有的皮肤病变。

Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis

OBJECTIVE: To investigate the gene mutation in two pedigrees with X-linked ichthyosis (XLI) and explore the relationship between the mutation and clinical manifestations. METHODS: Genomic DNA of the affected and normal members of the pedigrees and 50 unrelated normal subjects from different regions was extracted with a whole blood genomic DNA extraction kit for use of the template for PCR amplification of exon 1, exon 2 and exon 10 of the steroid sulfatase (STS) gene. RESULTS: The STS gene was partially deleted in the affected members in the pedigrees with XLI, leaving only exon 1 but not the other exons. The normal member of the pedigree and 50 unrelated normal subjects had no such deletion. CONCLUSION: Partial deletion of the STS gene exists in the two pedigrees with XLI, which is responsible for pathological skin changes characteristic of XLI.