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

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.