两X-性连遗传鱼鳞病家系类固醇硫酸酯酶基因研究

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

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。

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 exonl 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.