中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (11): 809-810.

• 短篇论著 • 上一篇    下一篇

Weber-Cockayne亚型单纯型大疱性表皮松解症一家系KRT5基因突变

黄一锦1,赵小燕2,赵岩1,林粼3,张益珠2,张启国2,吴泳4   

  1. 1. 厦门市第一医院
    2. 厦门市第一医院皮肤科
    3. 厦门市第一医院中心实验室
    4. 福州市福建医科大学附属协和医院皮肤性病科
  • 收稿日期:2010-03-11 修回日期:2010-04-13 出版日期:2010-11-15 发布日期:2010-11-10
  • 通讯作者: 黄一锦 E-mail:hyj8883697@126.com
  • 基金资助:

    厦门市科技计划项目基金

Mutation analysis of keratin 5 gene in a family with Weber-Cockayne epidermolysis bullosa simplex

  • Received:2010-03-11 Revised:2010-04-13 Online:2010-11-15 Published:2010-11-10

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摘要：

【摘要】　目的　研究Weber-Cockayne亚型单纯型大疱性表皮松解症(EBS)一家系的K5基因突变情况，为该病的基因诊断与遗传咨询提供依据。方法　收集一个Weber-Cockayne亚型单纯型大疱性表皮松解症的家系临床资料，采用聚合酶链反应及DNA直接测序的方法对家系内成员进行K5基因突变检测，同时对50名无亲缘关系正常对照者的该位点进行直接测序。针对所发现的突变，以限制性内切酶片段长度多态性分析加以验证。结果　该家系中所有患者均存在K5基因错义突变I 161S，而在家系内正常人及50名无亲缘关系的正常对照者中均未发现该突变。结论　K5基因错义突变I161S是导致此家系中患者临床表现的特异突变。

关键词: 表皮松解症，大疱性，单纯性, 基因，K 5, 突变

Abstract:

【Abstract】　Objective　To identify K5 gene mutation in a pedigree with Weber-Cockayne type epidermolysis bullosa simplex (EBS) so as to provide a basis for the genetic diagnosis and counseling of EBS. Methods　A pedigree of Weber-Cockayne type EBS was investigated. Mutation scanning of K5 gene was carried out by PCR and direct DNA sequencing. K5 gene of 50 unralated normal people were also sequenced as control. The mutation was confirmed by restriction fragment length polymorphism. Results　A missense mutation I161S of the K5 gene was found in all patients with Weber-Cockayne type EBS, but was not found in normal individuals in the pedigree and 50 unrelated controls.Conclusion A missense mutation I161S of the K5 gene is the cause of the phenotype in this pedigree.

Key words: epidermolysis bullosa simplex, 　K5 gene, 　mutation