Li Xiao-li, Peng Zhen-hui, Xiao Sheng-xiang, Liu Yan, Pan Min, Zhou Shao-na
Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Shaanxi, 710004, People's Republic of China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):63-5.
To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).
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.
Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.
All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.
研究中国Hailey-Hailey病（HHD）患者ATP2C1基因的突变情况。
从外周血白细胞中提取基因组DNA。采用聚合酶链反应（PCR）和直接DNA测序法检测两个中国HHD家系患者及1例散发患者ATP2C1基因全部27个外显子的突变情况。
发现ATP2C1基因存在3种突变，包括1种无义突变、1种缺失/移码突变和1种错义突变。均为新发现的突变。
这3种突变均可能影响ATP2C1基因的转录和翻译，进而影响其编码蛋白的功能。
