Weber-Cockayne亚型单纯型大疱性表皮松解症一家系报告  

Investigation of gene mutation in a family with Weber-Cockayne type epidermolysis bullosa simplex

作　　者：徐哲[1] 丁保玲[1] 卜定方[1] 杨勇[1] 

机构地区：[1]北京大学第一医院皮肤科

出　　处：《临床皮肤科杂志》2006年第11期691-693,共3页Journal of Clinical Dermatology

基　　金：国家863计划基金资助项目(2002BA711A07);北京市科技计划基金资助项目(H020220020610)

摘　　要：目的:研究Weber-Cockayne亚型单纯型大疱性表皮松解症(EBS-WC)一家系的基因突变,并进行产前诊断。方法:应用PCR及DNA直接测序方法明确突变位点,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,在此基础上于妊娠24周时对从胎儿羊水所提取的DNA进行测序及酶切验证。结果:该家系患者存在角蛋白(keratin,KRT)5基因突变:第7外显子第1388位碱基由胸腺嘌呤突变为胞嘧啶,导致第463位氨基酸由亮氨酸变为脯氨酸(L463P)。50名健康对照者不存在此突变。羊水细胞DNA不存在此突变的胎儿,出生后未患大疱性表皮松解症。结论:KRT5第7外显子的突变是引起该家系临床症状的特异性突变。Objective： To identify gene mutation in a family with Weber-Cockayne type epidermolysis bullosa simplex （EBS-WC）. Methods： All exons of KRT5 and KRT14 gene were analyzed by PCR-DNA sequencing in the pedigree. The mutation was confirmed by restriction fragment length polymorphism （RFLP）. Fetal DNA, extracted from amniotic fluid, was analysed for the mutation. Results： A missense mutation of T1388C was found which caused L463P substitution in exon 7 of keratin 5. The mutation was not found in 50 normal controls. The DNA sample in amniotic fluid was found to he normal. A healthy baby was horn. Conclusions： The missense mutation L463P of keratin 5 is the underlying cause for this family with Weher-Cockayne type epidermolysis hullosa simplex （EBS-WC）.

关 键 词：表皮松解症 大疱性 单纯型 角蛋白5 突变 基因 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]