中华皮肤科杂志 ›› 2013, Vol. 46 ›› Issue (1): 47-49.

• 研究报道 • 上一篇    下一篇

家族性良性天疱疮一家系报道及其ATP2C1基因筛查

张学奇1,邵笑红1,蔡剑峰2,刘晶晶1,李智铭1,林孝华3,李秉煦3,徐云升1   

  1. 1. 温州医学院附属第一医院
    2. 浙江省温州市温州医学院附属第一医院
    3. 温州医学院附属第一医院皮肤科
  • 收稿日期:2012-04-09 修回日期:2012-07-04 出版日期:2013-01-15 发布日期:2013-01-01
  • 通讯作者: 徐云升 E-mail:xuyunsh@sohu.com

Benign familial chronic pemphigus in a family: a clinical survey and mutation analysis of ATP2C1 gene

  • Received:2012-04-09 Revised:2012-07-04 Online:2013-01-15 Published:2013-01-01
  • Contact: Yun-Sheng XU E-mail:xuyunsh@sohu.com

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摘要： 目的 报道一个家族性良性天疱疮家系并对其致病基因ATP2C1进行突变筛查。方法 对先证者及其家族4代成员进行临床调查。采集每一成员静脉血标本，同时采集50例健康人血液标本作为对照。提取外周血基因组DNA，分别对 ATP2C1基因的所有28个外显子及其侧翼内含子序列进行PCR扩增，再对每一扩增产物进行直接测序，最后将测序结果分别与基因库（NM_014382.2和NC_000003.9）的编码序列和基因组序列进行逐一比对分析。结果 调查该家系4代24个成员，共有8例患者。基因筛查显示先证者和该家族其他患者的ATP2C1基因第17号外显子上发生一单核苷酸碱基置换，即c（1696C→T）；同时该家族中第2代、第3代正常成员和50例健康对照均未检测到这一碱基变化。第4代4个成员中，仅有1个成员，即Ⅳ3，亦检测到这一变化。结论 该家系患者ATP2C1基因发生c（1696C→T）无义突变，可能是家族性良性天疱疮的致病突变；Ⅳ3携带该突变，但到目前为止，其未发生家族性良性天疱疮的相关临床症状，有必要对其进行密切随访。

关键词: 天疱疮，良性家族性, ATP2C1基因

Abstract: ZHANG Xue-qi, SHAO Xiao-hong, CAI Jian-feng, LIU Jing-jing, LI Zhi-ming, LIN Xiao-hua, LI Bing-xu, XU Yun-sheng. First Affiliated Hospital of Wenzhou Medical College, Wenzhou 325000, Zhejiang, China Corresponding author: XU Yun-sheng, Email: zxq9898@yahoo.com.cn 【Abstract】 Objective To report a Chinese pedigree with benign familial chronic pemphigus （BFCP）, and to screen mutations of ATP2C1 gene in this family. Methods A 39-year-old male patient with BFCP and his family members underwent a clinical investigation. Blood samples were collected from all the members in this family and from 50 unrelated healthy controls. Genomic DNA was extracted from the blood samples, and PCR was performed to amplify all the 28 exons and flanking sequences of the ATP2C1 gene followed by DNA direct sequencing. The resulted DNA sequences were compared with the reported sequences of APT2C1 gene in Genbank （Number：NM_014382.2 and NC_000003.9）. Results There were 24 family members in the four-generation pedigree, with 8 members affected by BFCP. A single-nucleotide substitution, c（1696C→T）, in exon 17 of the ATP2C1 gene was identified in all of the members with BFCP, but not in unaffected third- or second-generation members or unrelated healthy controls. This substitution was also found in 1 out of 4 family members of fourth-generation. Conclusions The nonsense mutation c（1696C→T） in the ATP2C1 gene, is likely to be responsible for BFCP in this Chinese four-generation pedigree. The underage family member of fourth-generation who carried the mutation c（1696C→T） but had no clinical symptoms of BFCP, should be closely followed.

Key words: Hailey-Hailey disease

中图分类号: 

  • R75