Zhang Guo-long, Sun Yi-tao, Shi He-jian, Gu Yong, Shao Min-hua, Du Xu-feng
Department of Dermatology, Wuxi People's Hospital, Wuxi, Jiangsu, 214023 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Aug;27(4):414-6. doi: 10.3760/cma.j.issn.1003-9406.2010.04.012.
To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family.
All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls.
We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls.
The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.
研究一个患有黑利-黑利病（HHD）的中国家系，并鉴定该家族中ATP2C1基因突变情况。
采用聚合酶链反应和DNA测序技术对该家族所有患者及80名无亲缘关系的匹配对照人群的ATP2C1基因所有外显子进行分析。
我们鉴定出一个163C突变为T的无义突变，导致ATP2C1基因出现提前终止密码子。该突变在该家族的正常个体及对照人群中均未发现。
该突变可影响ATP2C1基因的转录和翻译结果，且首次在中国HHD家系中报道。
