中华皮肤科杂志 ›› 2010, Vol. 43 ›› Issue (6): 393-395.

• 论著 • 上一篇    下一篇

家族性良性天疱疮ATP2C1基因突变研究

颜潇潇1,田洪青2,于永翔2,王广进2,施仲香3,张福仁*2   

  1. 1.
    2. 山东省皮肤病性病防治研究所
    3. 山东省皮肤病医院
  • 收稿日期:2009-10-23 修回日期:2010-02-25 出版日期:2010-06-15 发布日期:2010-06-08
  • 通讯作者: 颜潇潇 E-mail:yanxiaoxiao1979@163.com
  • 基金资助:

    山东省自然科学基金项目

Mutation analysis of ATP2C1 gene in patients with Hailey-Hailey disease

  • Received:2009-10-23 Revised:2010-02-25 Online:2010-06-15 Published:2010-06-08

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摘要：

目的 探讨家族性良性天疱疮5个散发病例的ATP2C1基因突变。方法 5例来自门诊的散发病例，采集外周血，提取基因组DNA，采用PCR和DNA直接测序的方法，检测5个散发家族性良性天疱疮患者的ATP2C1基因突变，在100例正常人对照中予以验证。结果 在5例具有典型临床表现，经皮肤病理和免疫病理确诊的散发家族性良性天疱疮患者，检测到5个未曾报道的ATP2C1基因突变位点，包括1个缺失突变（2025delG），3个错义突变（L269R，C348R，A651D），和1个无义突变（Q259X）。100例正常人对照中均未检测到上述突变。结论 发现家族性良性天疱疮新的ATP2C1基因突变位点。

关键词: 家族性良性慢性天疱疮, ATP2C1 基因, 突变分析

Abstract:

Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease （HHD）. Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent. Blood samples were taken from all patients and 100 unrelated human controls, and DNA was extracted from these samples. Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction （PCR） and direct sequencing. Results The diagnosis of all cases was confirmed by typical clinical manifestation, cutaneous pathology and immunofluorescence pathology. Five novel mutations, including a deletion mutation （2025delG）, three missence mutations （L269R, C348R, A651D） and a non-sense mutation （Q259X ） were identified in these cases. No mutations were detected in any of the 100 controls. Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.

Key words: Hailey-Hailey disease, ATP2C1 gene, Mutation analysis