中华皮肤科杂志 ›› 1997, Vol. 30 ›› Issue (6): 374-376.

• 论著 • 上一篇    下一篇

聚合酶链反应-DNA测序检测大疱性先天性鱼鳞病样红皮病家系角蛋白K10基因点突变

李冠群1, 吴安2, 马玲蕾1, 朱学骏1   

  1. 1. 北京医科大学第一医院皮肤科 100034;
    2. 西安医科大学第二附属医院皮肤科
  • 收稿日期:1997-01-24 修回日期:1997-04-10 出版日期:1997-12-15 发布日期:1997-12-15

Detection of Keratin 10 Gene Point Mutation in a Family with Bullous Congenital Ichthyosiform Erythroderma by PCR and DNA Sequencing

Li Guanqun1, Wu An2, Zhu Xuejun1   

  1. Department of Dermatology, The First Teaching Hospital, Beijing Medical University, Beijing 100034
  • Received:1997-01-24 Revised:1997-04-10 Online:1997-12-15 Published:1997-12-15

PDF

322

赞

摘要： 为了检测具有典型临床、病理及免疫组化表现的大疱性先天性鱼鳞病样红皮病患者及其家族成员的基因点突变,通过聚合酶链反应结合DNA直接测序的方法对患者的K10第一外显子进行了分析.结果表明患病成员K10基因的第156密码子发生了C→A的碱基替换,从而导致精氨酸变成丝氨酸,并破坏了AciⅠ的酶切位点,而患者家族中未发病成员均未见有基因突变.该突变位于编码角蛋白K10的1A亚区.这一研究为建立大疱性先天性鱼鳞病样红皮病的基因诊断奠定了基础.

关键词: 鱼鳞病,大疱性, 基因, 突变

Abstract: Bullous congenital ichthyosiform erythroderma(BCIE) is an autosomally dominant dermatosis. Recent investigations have suggested that K1/K10 gene point mutations may be responsible for this disease. In this study, we analyzed the K10 Exon 1 of a family with BCIE by PCR and DNA sequencing. The patient had typical clinical, histopathological and immunohistochemical manifestations of BCIE. The result showed that condon 156 of K10 gene had a C→A subsititution, which caused arginine to change into serine in 1A subdomain of rod domain of K10 protein. This mutation was found only in the patient, but not in unaffected family members. Our study may provide a reliable basis for the genetic diagnosis of BCIE.

Key words: Ichthyosis,bullous, Genes, Mutation