1例DEB的基因突变研究  

Study of Gene Mutation of Dominant Dystrophic Epidermolysis Bullosa of One Case

作　　者：邓伟平[1] 陆春[2] 朱国兴[2] 顾有守[3] 

机构地区：[1]广东省人民医院皮肤科,广东广州510080 [2]中山大学附属第三医院,广东广州510630 [3]广东省皮肤性病防治中心,广东广州510500

出　　处：《中国皮肤性病学杂志》2004年第11期665-667,共3页The Chinese Journal of Dermatovenereology

基　　金：广东省自然科学基金资助(031655)

摘　　要：目的检测1例营养不良型大疱性表皮松解症(DEB)家系的基因突变位点。方法对1例DEB患者及其家属成员采用聚合酶链反应及DNA直接测序方法进行COL7A1基因突变检测。结果患者存在COL7A1上第6240位鸟嘌呤G被腺嘌呤A代替(G→A),使得2043位的甘氨酸被精氨酸替代(G2043R),其父母、妹妹及健康人未见此突变。结论COL7A1基因的G2043R突变可能是引起本例临床表现的原因,且是一个denovo突变。Objective To detect the position of gene mutation in a patient with dystrophic epidermolysis bullosa (DEB)and her family .Methods Dectation of gene mutation was carried out with polymerase chain reaction(PCR) and DNA sequencing to a patient with DEB and her family members.Results G6240A transition in the COL7A1 gene was found in the patient.This mutation resulted in G2043R substitution in type Ⅶ collagen gene.No mutation was found in her parent,sister and normal individuals.Conclusion The mutation,G2043R is cause of patient with DEB.It is a mutation of de novo.

关 键 词：营养不良型大疱性表皮松解症 Ⅵ胶原基因 突变 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]