一个表皮松解性掌跖角化病家系的KRT9基因突变分析  

Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma

作　　者：张宝荣[1] 殷鑫浈[1] 夏昆[2] 丁美萍[1] 胡正茂[2] 郑敏[3] 刘志蓉[1] 夏家辉[2] 

机构地区：[1]浙江大学医学院附属第二医院神经科,杭州310009 [2]中南大学医学遗传学国家重点实验室 [3]浙江大学医学院附属第二医院皮肤科,杭州310009

出　　处：《中华医学遗传学杂志》2004年第6期570-573,共4页Chinese Journal of Medical Genetics

基　　金：浙江省自然科学基金(M303800);863计划(2002BA711A07;2002BA711A08);973计划(2001CB510302);浙江省教育厅立项(20020803);高等学校国家重点实验室访问学者基金(J20020061)~~

摘　　要：目的明确一个伴随有类似关节指垫样病损和指甲病变的表皮松解性掌跖角化病的中国家系中角蛋白9(keratin9,KRT9)基因突变情况。方法用聚合酶链反应技术扩增家系成员及家系外50名正常人KRT9基因的编码区及外显子与内含子交界处,DNA序列分析寻找突变位点,然后经限制性内切酶Dde分析验证。结果患者KRT9基因第1外显子第160位密码子发生AAT→AGT的突变(N160S),而家系正常成员及家系外50个正常人中均不存在此突变。结论KRT9基因的第1外显子第160位密码子发生AAT→AGT突变(N160S)导致该家系患者发生表皮松解性掌跖角化病。Objective To identify mutations of keratin 9 ( KRT9) gene in a big Chinese family with epidermolytic palmoplantar keratoderma(EPPK) combined with knuckle pad like lesions and nail lesions. Methods Genomic DNA from peripheral blood of all available members in this family and 50 unrelated healthy individuals was used for amplification of the whole coding sequence and the intron exon boundaries of KRT9 gene by PCR;The mutation was detected by direct sequence analysis and identified by restriction endonuclease DdeⅠ. Results A mutation of AAT→AGT at codon 160 (N160S) was found in all patients but not in unaffected family members and 50 controls. Conclusion The mutation of AAT→AGT at codon 160 (N160S) is the disease causing mutation in this Chinese pedigree with EPPK.

关 键 词：家系 松解 掌跖角化病 基因突变 表皮 正常人 患者 密码子 外显子 内含子 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]