中国麻风皮肤病杂志 ›› 2016, Vol. 32 ›› Issue (3): 133-135.

• 论著 • 上一篇    下一篇

播散性浅表性光化性汗孔角化症MVK基因突变检测

Parimi Leela Rani 1,2 付希安3# 王真真3 杨宝琦3 施仲香3 刘红3 张福仁1,3*   

  1. 1.山东省皮肤病医院，山东大学，济南，250000 2.山东省皮肤病性病防治研究所，山东省医学科学院，济南，2500222 3.山东大学医学院，济南，250000 # 并列第一作者
  • 出版日期:2016-03-15 发布日期:2018-12-18
  • 通讯作者: 张福仁，E-mail: zhangfuren@hotmail.com
  • 基金资助:
    山东省自然科学基金青年基金（编号：ZR2012HQ031）

Mutation detection of MVK gene with disseminated superficial actinic porokeratosis

Parimi Rani Leela, FU Xi’an,WANG Zhenzhen, YANG Baoqi, SHI Zhongxiang, LIU Hong, ZHANG Furen.   

  1. 1. Shandong Provincial Hospital for Skin Diseases, Affilicated to Shandong University, Jinan 250022, China 2. School of Medicine, Shandong University, Jinan250000, China 3. Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan 250022 , China
  • Online:2016-03-15 Published:2018-12-18
  • Contact: Zhang Furen, E-mail: zhangfuren@hotmail.com

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摘要： 目的：研究2个中国汉族播散性浅表性光化性汗孔角化症（DSAP）家系患者MVK基因突变。方法：提取2个DSAP家系及1 0 0 名无亲缘关系的健康对照外周血DNA，采用PCR扩增患者MVK基因的全部外显子及其侧翼序列，用Sanger测序法对PCR扩增产物直接测序检测基因突变。结果：发现1 个新的剪切位点突变（c.1040-2A>C）和1 个已报道的错义突变（c.1094T>C）。结论：本研究进一步证实MVK基因突变与DSAP发病相关。

关键词: 播散性浅表性光化性汗孔角化症, MVK基因, 基因突变

Abstract: Objective: To detect mutations of MVK gene in 2 familial patients with disseminated superficial actinic porokeratosis (DSAP). Methods: Polymerase chain reaction and direct sequencing were performed in the 2 DSAP families and 100 healthy controls to identify the mutations of MVK gene. Results: One novel splicing mutation（c.1094T>C） and one reported missense mutation （c.1094T>C） were identified. Conclusions: This study further confirms that MVK is associated with the onset of DSAP, which contributes further to the understanding of the pathogenesis of DSAP.

Key words: DSAP, MVK gene, mutations