慢性家族性良性天疱疮五家系ATP2C1基因突变分析  

Detection of ATP2C1 gene in five pedigrees with Hailey-Hailey disease

作　　者：王霆 崔红宙[2] 王德彤 高杰 郭书萍[2] WANG Ting;CUI Hongzhou;WANG Detong;GAO Jie;GUO Shuping(Shanxi Medical University,Taiyuan 030001,China;Department of Dermatology,First Hospital of Shanxi Medical University,Taiyuan 030000,China;Shanxi Provincial People s Hospital,Taiyuan 030012,China)

机构地区：[1]山西医科大学,山西太原030001 [2]山西医科大学第一医院皮肤科,山西太原030000 [3]山西省人民医院皮肤科,山西太原030012

出　　处：《中国麻风皮肤病杂志》2019年第6期327-329,共3页China Journal of Leprosy and Skin Diseases

基　　金：国家自然科学基金(编号:81502714)

摘　　要：目的:检测中国汉族慢性家族性良性天疱疮5家系ATP2C1基因突变情况。方法:提取5家系中12例患者、13名表型正常及100名正常对照外周血基因组DNA,经PCR扩增后进行DNA测序,并使用Chromas软件解析。结果:家系1中3例患者存在ATP2C1基因第18号外显子c.1738A>G(p.I580V)突变,家系2中2例患者存在ATP2C1基因第25号外显子c.2416C>T(p.R806*)突变,家系3中3例患者存在ATP2C1基因第15号外显子c.1250G>A(p.R417K)突变,家系4和家系5中ATP2C1基因未发现突变。上述家系内表型正常个体及100名正常对照中均未检测到相应突变。结论:ATP2C1基因突变可能在3例汉族HHD家系内发挥致病作用。Objective:To detect the mutation of ATP2C1 gene in five Chinese Han pedigrees with Hailey-Hailey disease (HHD). Methods:DNA was extracted from blood samples in 12 affected and 13 unaffected members in 5 pedigrees of HHD and 100 healthy controls. All the exons and flanking sequence of ATP2C1 gene were amplified by PCR. The products were purified and directly sequenced by sanger sequencing. Chromas was used to screen for mutations. Results:c.1738A>G (p.I580V) in exon 18, c.2416C>T (p.R806*) in exon 25 and c.1250G>A (p.R417K) in exon 15 in ATP2C1 were found in 3 pedigrees respectively. There was no mutation was found other two pedigrees. These mutations were not found in the healthy members of the families and the 100 healthy controls. Conclusion:These 3 mutations in the ATP2C1 gene may be the causative factor of HHD in these 3 pedigrees.

关 键 词：慢性家族性良性天疱疮 ATP2C1基因 

分 类 号：R758.66[医药卫生—皮肤病学与性病学]