X-性连锁鱼鳞病一家系STS基因及其侧翼序列检测

Detection of the STS Gene and Flanking Sequences in a Chinese Pedigree with X-linked Ichthyosis

目的检测一个中国X-性连锁鱼鳞病(XLI)家系类固醇硫酸酯酶(STS)基因及其侧翼序列突变情况。方法收集家系患者临床资料,抽取该家系中患者、表型正常者及与该家系无关的50例健康人外周血,提取外周血DNA,PCR扩增外周血基因组DNA的STS基因及侧翼序列。结果家系中全部患者均存在STS基因及侧翼序列DXS1139-DXS22S1缺失,而表型正常者及50例健康人未发现这种缺失。结论 STS基因及侧翼序列缺失是导致该家系患者临床表型的原因。

Objective To detect steroid sulfatase （STS） gene and flanking sequences mutation in a Chinese pedigree with X-linked ichthyosis （XLI）. Methods The clinical data of the pedigree were obtained. Genomic DNA was extracted from the peripheral blood of the affected and normal members of the pedigree and 50 healthy volunteers followed by the amplification of the exons 1 - 10 of STS gene and flanking sequences DXS89-DXSl134. Results The exons 1 - 10 of the STS gene and flanking sequences DXSl139-DXS22S1 were completely deleted in the affected members in the pedigree, while the normal members of the pedigree and 50 unrelated healthy volunteers had no such deletion. Conclusion The complete deletion of STS gene and flanking sequences is likely to be responsible for the phenotype of XLI in the pedigree.