单纯型大疱性表皮松解症的角蛋白基因突变分析  

Analysis of keratin gene mutations in Chinese pedigrees with epidermolysis bullosa simplex

作　　者：汤华阳[1] 高敏[1] 崔勇[1] 杜文辉[1] 方巧云[2] 周伏圣[2] 杨森[1] 杜卫东[2] 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230032 [2]安徽医科大学皮肤病研究所

出　　处：《安徽医科大学学报》2008年第2期208-211,共4页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金项目(编号:30500440)

摘　　要：目的检测单纯型大疱性表皮松解症(EBS)致病基因角蛋白5(K5)和角蛋白14(K14)基因突变,分析基因型和表型之间的相关性。方法采用PCR和直接测序法对中国汉族人3个EBS家系进行K5基因和K14基因的突变检测,以100例健康人作为正常对照。结果K5基因发现2个突变,一个为移码突变c.1649delG,另一个为错义突变c.508G>A;K14基因发现一个错义突变,为c.1237G>A;在正常对照中未发现上述突变。结论K5或K14基因突变导致该3个家系中患者发病。Objective To detect the mutations of K5 and K14 gene in three Chinese families with epidermolysis bullosa simplex（EBS） and analyze the genotype-phenotype correlations. Methods All the coding exons of K5 and K14 gene of these patients and all available unaffected family members and 100 unrelated population-matched vol-unteers were amplified by polymerase chain reaction. The products were analyzed by direct sequencing. Results The frameshifi mutation （c. 1649delG） and missense mutation （c. 508G 〉 A）were identified in KS; another mis-sense mutation （c. 1237G〉A）were identified in K14. Conclusion These mutations in K5 or K14 gene are responsible for the EBS in these three families.

关 键 词：表皮松解症 大疱性 单纯型/遗传学 角蛋白/遗传学 突变 

分 类 号：R758.66[医药卫生—皮肤病学与性病学] R394.3[医药卫生—临床医学]