慢性家族性良性天疱疮患者的ATP2C1基因突变检测  

Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease

作　　者：李晓莉[1] 彭振辉[1] 肖生祥[1] 刘艳[1] 潘敏[1] 周少娜[1] 

机构地区：[1]西安交通大学第二医院皮肤科,710004

出　　处：《中华医学遗传学杂志》2008年第1期63-65,共3页Chinese Journal of Medical Genetics

摘　　要：目的研究慢性家族性良性天疱疮（ Hailey-Hailey disease, HHD）患者ATP2C1基因的突变。方法应用外周血细胞DNA抽提、PCR扩增和DNA直接测序等方法对中国非同族的2个HHD家系和1例散发患者的ATP2C1基因的27个外显子进行突变检测。结果发现1例无义突变、1例缺失移码突变和1例错义突变，这3例的突变方式目前国内外尚未见报道。结论这3种突变方式均会影响转录和翻译的结果，进而造成蛋白质功能的异常，表现出HHD相应的临床症状和体征，所检测出的突变可能是造成相应家系和散发患者临床病变的特异突变。Objective To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease （HHD）. Methods Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons Of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD. Results Three mutations in ATP2C1 gene were fotmd, including 1 nonsense mutation, 1 deletion/ frameshift mutation and 1 missense mutation. All of them were novel mutations. Conclusion All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene

关 键 词：慢性家族性良性天疱疮 ATP2C1基因 基因突变 

分 类 号：R758.6[医药卫生—皮肤病学与性病学]