家族性良性天疱疮基因突变研究  

Study on the mutations of ATP2C1 gene in patients with Harley-Harley disease

作　　者：颜潇潇[1] 蒋德科[2] 张福仁[1] 田洪青[1] 周桂芝[1] 卢宪梅[1] 余龙[2] 

机构地区：[1]山东省皮肤病性病防治研究所,济南250022 [2]复旦大学遗传工程国家重点实验室

出　　处：《中华皮肤科杂志》2006年第6期308-310,共3页Chinese Journal of Dermatology

基　　金：山东省科技攻关计划基金(031050116)

摘　　要：目的探讨家族性良性天疱疮17个先证者的ATP2C1基因突变。方法采用PCR和DNA直接测序的方法,检测17个家族性良性天疱疮先证者的ATP2C1基因外显子区。结果在9个先证者中检测到8个不同的ATP2C1基因突变位点,包括3个缺失突变(nt1464-1487/1462-1485del,1523delAT和2375delTFGT),3个剪接位点突变(360-2A→G,1415-2A→T和2243+2T→C)及2个错义突变(P307L和D648Y)。120例正常人对照中均未检测到上述几种突变。结论此8个ATP2C1基因突变是该病新的特异突变。Objective To detect the mutations of ATP2C1 gene in patients with Hailey-Hailey disease （ HHD ）. Methods PCR and direct sequencing were performed in 17 patients and 120 healthy controls to screen the mutations in the exons of ATP2C1 gene. Results Eight mutations were identified in nine probands, including three deletion mutations （nt1464-1487 del / nt1462-1485del, 1523delAT, 2375delTTGT）, three splice site mutations （360 -2 A→G, 1415 -2 A→T, 2243 ＋2 T→C） and two missence mutations （ C920T and G1942T ）. None of the above mutations was found in the controls. Conclusion Eight specific novel mutations were identified in nine probands of HHD, which could be causative factors of the disease.

关 键 词：天疱疮 良性家族性 基因 ATP2C1 突变 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]