Hallpeau-Siemens型隐性营养不良型大疱性表皮松解症一例的基因突变研究  

Analysis of Mutations in COL7A1 Gene in a Hallopeau-Siemens Variant of Recessive Dystrophic Epidermolysis Bullosa

作　　者：姜薇[1] 孙莹[1] 陈喜雪[1] 李颂[1] 卜定方[1] 朱学骏[1] 

机构地区：[1]北京大学第一医院皮肤科

出　　处：《中华皮肤科杂志》2005年第10期597-599,共3页Chinese Journal of Dermatology

基　　金：科技部重大专项基金(2002BA711A07)

摘　　要：目的鉴定一常染色体隐性遗传营养不良型大疱性表皮松解症家系的基因突变。方法应用PCR、DNA直接测序明确突变位点,根据突变位点设计特异性引物,用PCR检测突变位点从而进一步确定该家系的致病原因。结果发现该患者COL7A1基因的一条等位基因第2号外显子上存在S48P的错义突变,而另一条等位基因第27号外显子上存在3625del11缺失突变,造成编码区阅读框架的移位,最终导致蛋白终止密码(PTC)的产生。隐性营养不良型大疱性表皮松解症患者这种两个突变的组合在国际上为首次报道。结论 COL7A1基因的缺失突变和错义突变引起该患者临床症状的特异突变。Objective To identify COL7A1 gene mutations in a family of recessive dystrophic epidermolysis bullosa （RDEB）. Methods PCR and direct DNA sequencing were used to determine the mutation sites and types. PCR using allele-specific oligonucleotide primers was performed to further identify the pathogenic cause of this disease. Results The patient examined in this study was a compound heterozygote for a S48P missense mutation in exon 2 and a 3625del 11 PTC mutation in exon 27, which was a novel combination of COLTA1 mutations in RDEB. Conclusion The missense mutation and the nonsense mutation in COL7A1 gene are underlying causes of the Hallopeau-Siemens variant of RDEB.

关 键 词：表皮松解 大疱性 营养不良性 密码子 无义 突变 误义 隐性营养不良型大疱性表皮松解症 突变研究 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]