表皮松解性掌跖角化症一家系的KRT9基因突变研究  

Mutation analysis of KRT9 gene in A Chinese family with epidermolytic palmoplantar keratoderma

作　　者：刘琴[1] 吴要群[1] 常小丽[1] 吕红莉[1] 袁丞达[1] 王培光[1] 高敏[1] 周伏圣[2] 沈玉君[2] 杜文辉[1] 方巧云[2] 杨森[1] 张学军[1] 

机构地区：[1]安徽医科大学第一附属医院皮肤性病科,合肥230022 [2]安徽医科大学皮肤病研究所

出　　处：《安徽医科大学学报》2007年第3期243-246,共4页Acta Universitatis Medicinalis Anhui

基　　金：国家"863"计划资助课题(编号:2003AA227030)

摘　　要：目的研究一中国汉族人表皮松解性掌跖角化症(EPPK)家系KRT9基因是否发生突变,分析基因型和表型之间的相关性。方法收集1例EPPK家系,采用聚合酶链反应及直接测序的方法对该家系中6例患者KRT9基因进行突变检测,以家系中的14例健康者和100例无亲缘关系的正常人作对照。结果家系中6例患者KRT9基因的1号外显子第485位碱基鸟嘌呤G被腺嘌呤A替代,导致第162位的精氨酸被谷氨酰胺取代(R162Q),而家系中14例正常人和家系外100例正常人未发现此突变。结论错义突变c.485G>A是导致该家系临床表型的主要原因。Objective To identify the gene mutation of KRT9 gene in a Chinese family with epidermolytie palmoplantar keratoderma（EPPK） and to explore the correlation between the genotypes and phenotypes. Methods A Chinese family with epidermolytic palmoplantar keratoderma was investigated. All the coding exons of KRT9 gene were amplified by polymerase chain reaction and products were analyzed by direct sequencing. The results were compared with that of the other 14 normal members from the same family and 100 unrelated population - matched control individuals. Results 6 patients with EPPK in this family showed a point mutation at nucleotide 485 （ G 〉 A） compared with that of the normal controls, resulting in the substitution of glutamine for arginine at codon 162. Meanwhile the mutation was not found in the 14 normal individuals and 100 unrelated control samples. Conclusion The c. 485G 〉 A mutation of KRT9 gene seems to be the pathologic cause of this Chinese family with EPPK.

关 键 词：基因 突变 角化过度症  表皮松解/遗传学 皮肤角化病  掌跖 

分 类 号：R758.53[医药卫生—皮肤病学与性病学] R394[医药卫生—临床医学]