中华皮肤科杂志 ›› 2011, Vol. 44 ›› Issue (3): 203-204.

• 研究报道 • 上一篇    下一篇

X-性连锁鱼鳞病一家系类固醇硫酸酯酶基因研究

徐宏俊1,臧东杰2,周城3,张建中4   

  1. 1. 北京市民航总医院皮肤科
    2. 北京大学人民医院皮肤性病科
    3. 北京大学人民医院
    4. 北京大学人民医院皮肤科
  • 收稿日期:2010-06-25 修回日期:2010-07-14 出版日期:2011-03-15 发布日期:2011-03-10
  • 通讯作者: 张建中 E-mail:rmzjz@126.com

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

XU Hong-JunDong-Jie ZANG2,Cheng ZHOU 3   

  • Received:2010-06-25 Revised:2010-07-14 Online:2011-03-15 Published:2011-03-10

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摘要：

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。

关键词: 基因缺失

Abstract:

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.

Key words: gene deletion