单纯型大疱性表皮松解症Weber-Cockayne亚型一家系角蛋白5基因突变的检测

Keratin 5 gene mutation in a family with Weber-Cockayne type epidermolysis bullosa simplex

鉴定单纯型大疱性表皮松解症Weber-Cockayne亚型一家系中的基因突变位点。方法:应用聚合酶链反应(PCR)及DNA直接测序的方法,检测患者角蛋白5(KRT5)及角蛋白14(KRT14)基因的全部编码序列;针对所发现的突变,以限制性内切酶片段长度多态性(RFLP)分析加以验证。结果:该家系患者存在KRT5基因突变:第2外显子第596位碱基由腺嘌呤突变为胞嘧啶,导致第199位氨基酸由赖氨酸变为苏氨酸(K199T),而正常对照无此替代。结论:KRT5K199T为导致此家系中患者临床表现的特异突变,此突变位点为国内外首次报道。

Objective: To identify gene mutation in a family with Weber-Cockayne type epidermolysis bullosa simplex (WC-EBS). Methods:The encoding regions of keratin 5 and keratin 14 were analyzed by PCR and direct DNA sequencing. The mutation was confirmed by restriction fragment length polymorphism (RFLP). Results: A missense mutation of A596C was identified which caused K199T substitution in exon2 of keratin 5. Conclusions: KRT5 K199T mutation is the cause of the phenotype in this family. This mutation was not reported previously.