一个表皮松解性掌跖角化病家系的KRT1基因突变分析

中华皮肤科杂志 ›› 2011, Vol. 44 ›› Issue (4): 232-234.

一个表皮松解性掌跖角化病家系的KRT1基因突变分析

钱佳丽¹,臧东杰²,周城¹,张建中³

1. 北京大学人民医院
2. 北京大学人民医院皮肤性病科
3. 北京大学人民医院皮肤科

收稿日期:2010-08-04 修回日期:2010-09-19 出版日期:2011-04-15 发布日期:2011-04-01
通讯作者: 张建中 E-mail:rmzjz@126.com

Mutation analysis of KRT1 gene in a Chinese pedigree with epidermolytic palmoplantar keratoderma

Dong-Jie ZANG²,Cheng ZHOU ³

Received:2010-08-04 Revised:2010-09-19 Online:2011-04-15 Published:2011-04-01

摘要/Abstract

摘要：

目的探讨一个中国汉族人表皮松解性掌跖角化病（EPPK）家系的角蛋白基因KRT1、KRT9、KRT10突变情况。方法收集1个EPPK家系的临床资料，提取外周血DNA，通过PCR扩增角蛋白KRT1、KRT9、KRT10基因编码区的全部外显子及其侧翼序列并测序，以表型正常家系成员及50例健康人为正常对照。结果发现家系内6例患者均存在KRT1基因错义突变c.1436T > C，导致第479位的异亮氨酸被苏氨酸取代（I479T），在家系中6例正常人及50例对照者未发现上述突变。结论错义突变KRT1的c.1436T > C可能为导致该家系临床表型的主要原因。本例为国内首次发现的KRT1突变引起的EPPK家系。

关键词: KRT10

Abstract:

Objective To analyze the mutations in keratin 1 （KRT1）, KRT9 and KRT10 genes in a Chinese family with epidermolytic palmoplantar keratoderma （EPPK）. Methods Clinical data were collected from a family with EPPK. Genomic DNA was extracted from the peripheral blood of 12 family members, including 6 patients and 6 unaffected members, as well as from 50 unrelated normal human controls. PCR was performed to amplify all the exons and flanking sequences of KRT1, KRT9 and KRT10 genes followed by DNA sequencing. Results A missense mutation c.1436T > C was found in the highly conserved helix termination motif of KRT1 gene of all the patients, resulting in a substitution of isoleucine by threonine at position 479 of the KRT1 protein. No mutation was found in the unaffected members or unrelated controls. Conclusions The missense mutation c.1436T > C in KRT1 gene is likely to be the main cause of the phenotype of EPPK in this family. This is the first report of a pedigree with KRT1 gene mutation-induced EPPK in China.

Key words: KRT10

钱佳丽臧东杰周城张建中. 一个表皮松解性掌跖角化病家系的KRT1基因突变分析[J]. 中华皮肤科杂志, 2011, 44(4): 232-234.

Dong-Jie ZANG Cheng ZHOU. Mutation analysis of KRT1 gene in a Chinese pedigree with epidermolytic palmoplantar keratoderma[J]. Chinese Journal of Dermatology, 2011, 44(4): 232-234.

参考文献

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