Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma

被引：5

作者：

Feng, Wenhua ^{[1
]}

Han, Weitian ^{[1
]}

Man, Xiaohui ^{[1
]}

Jiang, Miao ^{[1
]}

Bian, Chaoying ^{[1
]}

Wang, Ge ^{[1
]}

Li, Xuefu ^{[1
]}

Yi, Dongxu ^{[1
]}

Li, Jianxin ^{[1
]}

机构：

[1] Key Lab Reprod Hlth Liaoning, Shenyang 110031, Peoples R China

来源：

EUROPEAN JOURNAL OF DERMATOLOGY | 2008年 / 18卷 / 04期

关键词：

epidermolytic palmoplantar keratoderma; keratin; 9; gene; mutation detection; mutation hotspot; N161S mutation;

D O I：

10.1684/ejd.2008.0432

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We present a family from Northeast China affected by epidermolytic palmoplantar keratoderma (EPPK) in which we confirmed the presence of the N161S mutation as the result of a 548A > G transition in exon1 of the keratin 9 gene. Genomic DNA from peripheral blood of all available members in this family was used for amplification of exon1 of KRT9 by polymerase chain reaction. The mutation was detected by direct sequence analysis and identified by restriction endonuclease DdeI digestion. The finding of the same mutation in all available patients, together with the previous reports of the disease, strongly suggested that position 161 of the KRT9 gene also represents a mutation "hotspot" for EPPK. Our result is an important contribution to the investigation of the genotype/phenotype correlation and affords molecular genetic knowledge for future clinical diagnosis and gene therapy of EPPK.

引用

页码：387 / 390

页数：4