X-性连锁鱼鳞病一家系类固醇硫酸酯酶基因研究

Steroid sulfatase gene mutation in a Chinese pedigree with X-linked ichthyosis

目的检测一个中国汉族人x-性连锁鱼鳞病家系的类固醇硫酸酯酶（STS）基因突变情况。方法收集1个x-性连锁鱼鳞病家系的临床资料，提取外周血DNA，通过PCR扩增外周血基因组DNA类固醇硫酸酯酶基因的第1和第10外显子，以表型正常家系成员及50例健康人为正常对照。结果家系内全部患者均存在STS基因的完全缺失，即10个外显子均缺失，家系中正常人及对照者未发现上述缺失。结论STS基因的完全缺失可能为导致该家系临床表型的主要原因。

Objective To detect the steroid sulfatase （STS） gene mutation in a Chinese pedigree with X-linked ichthyosis （XLI）. Methods Genomic DNA was extracted from the peripheral blood of 3 affected patients and unaffected members in this family and 50 unrelated healthy volunteers followed by the amplification of the exon 1 and exon 10 of STS gene by PCR. Results Complete deletion of the exon 1 to 10 of STS gene was detected in all the patients in this pedigree with XLI, while no mutation was found in this gene in unaffected members of this family or normal human controls. Conclusion The complete deletion of STS gene is likely to be the main cause of the phenotype of XLI in this family.