中华皮肤科杂志 ›› 2016, Vol. 49 ›› Issue (7): 508-510.

• 研究报道 • 上一篇    下一篇

反常性痤疮一家系调查及致病基因突变分析

张晓峰1,苏惠春1,覃云飞2,李诚让3,肖学敏4,徐浩翔5,王宝玺1   

  1. 1. 中国医学科学院北京协和医学院皮肤病研究所
    2. 南宁市第二人民医院
    3. 南京 中国医学科学院北京协和医学院皮肤病研究所
    4. 福建医科大学附属协和医院
    5. 中国医学科学院皮肤病医院(研究所)
  • 收稿日期:2015-09-02 修回日期:2015-10-12 发布日期:2016-06-30
  • 通讯作者: 王宝玺 E-mail:wangbx@ncstdlc.org
  • 基金资助:

    国家自然科学基金;国家自然科学基金;国家自然科学基金;北京协和医学院协和青年基金

Acne inversa in a family: a clinical survey and genetic mutation analysis

  • Received:2015-09-02 Revised:2015-10-12 Published:2016-06-30
  • Contact: WHANG Baoxi E-mail:wangbx@ncstdlc.org
  • Supported by:

    the National Natural Science Foundation of China;the National Natural Science Foundation of China

摘要:

目的 研究一个反常性痤疮家系患者γ分泌酶基因突变情况。方法 收集1个反常性痤疮患者家系资料,该家系共4代30人,患者12例,其中在世患者9例。提取先证者及其有关亲属8例(患者5例、非患者3例)外周血DNA,采用PCR扩增NCSTN、PSEN1、PSENEN、Aph1基因编码区的全部外显子及其侧翼序列,测序并分析。选取100例健康人作为对照。结果 基因检测发现,5例患者外周血DNA中的PSENEN基因发生c.229_230insCACC插入突变,导致氨基酸翻译过程中移码,不能形成功能正常的PSENEN蛋白,家系中3例正常亲属及100例健康对照均无该突变。结论 反常性痤疮家系存在1个新的插入突变,即PSENEN c.229_230insCACC突变,可能是引起该家系反常性痤疮患病的分子机制。

关键词: &gamma, 分泌酶

Abstract:

Zhang Xiaofeng, Su Huichun, Qin Yunfei, Li Chengrang, Xiao Xuemin, Xu Haoxiang, Wang Baoxi Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042,China (Zhang XF, Su HC, Li CR, Xiao XM, Xu HX, Wang BX); Department of Dermatology, Second People′s Hospital of Nanning City, Nanning 530031, China (Qin YF) Corresponding author: Wang Baoxi, Email: wangbx@ncstdlc.org 【Abstract】 Objective To analyze γ?secretase gene mutations in a pedigree with acne inversa. Methods Clinical data were collected from a pedigree with acne inversa, which contained 30 members spanning 4 generations. Of these members, 12 were affected by acne inversa, and 9 of the affected members were alive. Peripheral blood DNA was obtained from the proband, his seven relatives (including 4 affected and 3 unaffected members), and 100 unrelated healthy human controls. PCR was performed to amplify all the coding exons and their flanking sequences of the NCSTN, PSEN1, PSENEN, Aph1 genes followed by DNA sequencing. Results A heterozygous insertion mutation (c.229_230insCACC) of the PSENEN gene, which led to translational frameshifting and resulted in dysfunciton of the PSENEN protein, was detected in all the 5 patients, but not in unaffected members or healthy controls. Conclusion There is a novel heterozygous insertion mutation c.229_230insCACC in the PSENEN gene, which may be the molecular basis of acne inversa in this family.

引用本文

张晓峰 苏惠春 覃云飞 李诚让 肖学敏 徐浩翔 王宝玺. 反常性痤疮一家系调查及致病基因突变分析[J]. 中华皮肤科杂志, 2016,49(7):508-510. doi: