[中国一个家族性良性慢性天疱疮家系中ATP2C1基因新突变的鉴定]
[Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease].
作者信息
Zhang Zheng-Zhong, Li Wei, Zhou Fu-Sheng, Gao Min, Xiao Feng-Li, Fang Qiao-Yun, Shen Yu-Jun, Du Wen-Hui, Sui Wei-Chi, Yang Sen, Zhang Xue-Jun
机构信息
Institute of Dermatology and Department of Dermatology, First Affiliated Hospital of Anhui Medical University, Key Laboratory of Gene Resource Utilization for Genetic Disease, Ministry of Education and Anhui Province, Hefei 230032, China.
出版信息
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Apr;29(2):163-6.
OBJECTIVE
To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.
METHOD
All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.
RESULTS
We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.
CONCLUSION
The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.
目的
研究一个患有黑利-黑利病（HHD）的中国家系，并检测该家族中ATP2C1基因突变情况。
方法
采用聚合酶链反应和DNA测序技术对该家族所有患者及100名无血缘关系的群体匹配对照者的ATP2C1基因所有外显子进行分析。
结果
我们在ATP2C1基因第3内含子235 - 2位置发现了一个新的杂合核苷酸A→G转换。该剪接位点突变在这个家系的健康成员和对照者中均未发现。
结论
该剪接突变可影响转录和翻译结果，是ATP2C1基因一个特异性的新突变。
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