中国麻风皮肤病杂志 ›› 2016, Vol. 32 ›› Issue (11): 672-675.

• 短篇论著 • 上一篇    下一篇

播散性浅表性光化性汗孔角化症SLC17A9基因突变分析

夏杨1，2 ，付希安2 ，田洪青2 ，刘红2 ，张福仁2   

  1. 1. 济南大学山东省医学科学院医学与生命科学学院，济南，250000； 2. 山东省皮肤病性病防治研究所，济南，250022
  • 出版日期:2016-11-15 发布日期:2018-12-20
  • 通讯作者: 张福仁，E-mail: zhangfuren@hotmail.com

Analysis of SLC17A9 gene mutations in disseminated superficial actinic porokeratosis

XIA Yang1，2, FU Xi,an2, TIAN Hongqing2, LIU Hong2, ZHANG furen2   

  1. 1. School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250062, China; 2. Shandong Provincial Institute of Dermatology and Venereology, Jinan 250022, China
  • Online:2016-11-15 Published:2018-12-20
  • Contact: ZHANG Furen, E-mail: zhangfuren@hotmail.com

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摘要： 目的：检测11例山东汉族播散性浅表性光化性汗孔角化症SLC17A9基因突变位点。方法：提取患者外周血DNA，采用PCR扩增患者SLC17A9基因的全部外显子及其侧翼序列，对PCR扩增产物直接测序检测。结果：11例DSAP患者的SLC17A9基因编码区的所有外显子均未发现突变。结论：本研究中11例DSAP患者的发病与SLC17A9基因的编码区序列无关。

关键词: 播散性浅表性光化性汗孔角化症(DSAP), SLC17A9基因, 基因突变

Abstract: Objective: To identify mutations of SLC17A9 gene in eleven patients with disseminated superficial actinic porokeratosis. Methods: After extracting DNA from peripheral blood, all the exons of SLC17A9 gene and their flanking intronic sequences were amplified by PCR, and then direct sequencing was performed to screen the mutations in the gene. Results: No mutation was found in any of the exons in SLC17A9 gene from the eleven patients. Conclusion: The pathogenesis of the eleven patients with disseminated superficial actinic porokeratosis is not associated with the sequence of coding region in SLC17A9 gene.

Key words: disseminated superficial actinic porokeratosis (DSAP), SLC17A9 gene, mutation