中华皮肤科杂志 ›› 1993, Vol. 26 ›› Issue (4): 216-218.

• 论著 • 上一篇    下一篇

性联隐性鱼鳞病和常染色体显性遗传鱼鳞病的Southern杂交分析

胡稚兰1, 方丽1, 余龙2, 赵寿元2   

  1. 1. 上海医科大学附属华山医院, 200040;
    2. 复旦大学遗传学研究所
  • 收稿日期:1992-04-14 修回日期:1992-09-16 出版日期:1993-08-15 发布日期:1993-08-15

Southern blot analysis of recessive X-linked and autosomal dominant ichthyosis

HU Zhi-Lan1, FANG Li1   

  1. Hua Shanghai Hospital, Shanghai 200040
  • Received:1992-04-14 Revised:1992-09-16 Online:1993-08-15 Published:1993-08-15

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摘要： 用类固醇硫酸醋酶(Steroid sulfatase, STS)基因的cDNA为探针对19例性联隐性鱼鳞病和11例常染色体显性遗传(常显)鱼鳞病分别进行Southern杂交,发现84%性联隐性鱼鳞病患者有ST5基因缺失,且为全长STS基因缺失,常显鱼鳞病组均正常.此实验室检查对鱼鳞病的基因诊断、携带者检测及产前诊断有较大的意义.

关键词: 鱼鳞病, 类固醇硫酸酷酶基因, 杂交

Abstract: Southern hybridization of 19 cases of reces-sive X-linked ichthyosis and 11 cages of autosomal dominant ichthyosis was analyzed using steroid sulfatase gene cDIVA clone. The results indicated that 84% cases of X-linked ichthyosis have ST5 gene deletion (entire gene deletion) whereas all patients with autosomal dominant ichthyosis do not. This lalaoratory test has fundamental siginficance far the gene diagnosis, carrier detection and prenatal diagnosis of ichthyosis.

Key words: Ichthyosis, Steroid sulfatase gene, Hybridization