X性联锁遗传鱼鳞病一家系的STS基因研究

目的 研究一 X性联锁遗传鱼鳞病(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 应用PCR方法扩增家系中的先证者及其母亲及与该家系无关的50例正常人外周血基因组DNA STS基因的第一外显子和第十外显子。以角蛋白hHb6为引物,作内对照。结果 家系中先证者的STS基因全部缺失,而先证者之母和与该家系无关的50例正常人未发现缺失。先证者及先证者之母的内对照引物PCR扩增后都有产物。结论 该XLI家系存在STS基因缺失,该缺失引发出XLI特有的皮肤病变。

Investigation of STS Gene in a Pedigree with X-Linked Ichthyosis

Objective To investigate the gene mutation in a pedigree with X-linked ichthyosis(XLI) and to explore the relationship between the mutation and clinical manifestations. Methods Genomic DNA of affected proband, his mother and 50 unrelated normal members were extracted with a whole blood genomic DNA extraction kit and was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exonl and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Results The STS gene was deleted in affected proband in the pedigree with X-linked ichthyosis. His mother and 50 unrelated normal members had no such deletion. The blank contrast had no product. Proband and his mother had products in the internal control. Conclusion Deletion of the STS gene exists in this pedigree with X-linked ichthyosis and it causes with the special skin pathological changes of X-linked ichthyosis.