隐性营养不良型大疱性表皮松解症3例患者的COL7A1基因突变检测  

Study of the COL7A1 Gene Mutations of 3 Patients with Recessive Dystrophic Epidermolysis Bullosa

作　　者：许桂文[1] 林志淼[2] 尹菁华[2] 汪慧君[2] 冯程[2] 张洁[3] 潘敏[4] 陈官芝[4] 杨勇[2] 汤占利[3] 

机构地区：[1]青岛大学,山东青岛266071 [2]北京大学第一医院皮肤科,北京100034 [3]山东大学齐鲁医院皮肤科,山东济南250012 [4]青岛大学附属医院皮肤科,山东青岛266003

出　　处：《中国皮肤性病学杂志》2015年第4期361-364,共4页The Chinese Journal of Dermatovenereology

基　　金：2013年青岛市科技发展计划(13-1-4-146-jch);2013年山东省自然科学基金(ZR2013HM015)

摘　　要：目的检测3例隐性营养不良型大疱性表皮松解症患者COL7A1基因突变位点。方法提取3例患者及其相关亲属外周血DNA,采用PCR扩增COL7A1基因编码区的全部外显子及其侧翼序列并测序。结果基因检测发现3例患者共有5个突变位点,包括2个错义突变(p.P2232L与p.G1531E),2个无义突变(p.R2492*与p.R2777*)和1个剪切位点突变(ds IVS6+2T>C),其中p.P2232L,p.G1531E,ds IVS6+2T>C这三个突变位点未曾报道。结论上述突变可能参与了隐性营养不良型大疱性表皮松解症的致病机制。Objective To determine the COL7A1 gene mutation in 3 patients with recessive dystrophic epidermolysis bullosa（RDEB）. Methods One hundred and eighteen coding exons and flanking sequences of the COL7A1 gene were amplified by PCR and DNA sequencing was followed. Results We found 5 mutations in the COL7A 1 gene, including 2 missense mutations （ p. P2232L, p. G1531 E）, 2 nonsense mutations （ p. R2492 ＊ , p. R2777 ＊ ） and 1 splicing mutations（ds IVS6 ＋ 2T 〉 C）. Among the 5 mutations, p. P2232L, p. G1531 E, ds IVS6 ＋ 2T 〉 C were novel. These mutations were not detected in 200 normal control individuals. Conclu- sion These mutations in COLTA1 gene may be involved in the causes of the recessive dystrophic epidermol- ysis bullosa.

关 键 词：隐性营养不良型大疱性表皮松解症 COL7A1基因 基因突变 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]