播散性浅表性光化性汗孔角化症SLC17A9基因突变分析

Analysis of SLC17A9 gene mutations in disseminated superficial actinic porokeratosis

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例播散性浅表性光化性汗孔角化症(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。

Objective：To identify mutations of SLC17A9 gene in eleven patients with disseminated superfi-cial 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.