AP1S3基因突变与泛发性脓疱型银屑病的相关性研究  

Association of AP1S3 mutation with generalized pustular psoriasis

作　　者：李璐璐[1,2,3] 尤家宝 付希安[2,3] 于功奇[2,3] 刘红[2,3] 张福仁[2,3] LI Lulu;YOU Jiabao;FU Xi＇an;YU Gongqi;LIU Hong;ZHANG Furen(School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan 250000, China;Shandong Provincial Institute of Dermatology and Venereology, Jinan 250022, China;Shandong Dermatological Hospital, Jinan 250022, China)

机构地区：[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 [3]山东省皮肤病医院,济南250022

出　　处：《中国麻风皮肤病杂志》2018年第3期131-134,共4页China Journal of Leprosy and Skin Diseases

基　　金：山东省自然科学基金三院联合项目(编号:ZR2014YL037)

摘　　要：目的:检测107例中国汉族泛发性脓疱型银屑病(GPP)患者衔接蛋白复合体1-σ1亚单位异构体基因(AP1S3)的突变。方法:提取全部107例GPP患者外周血DNA,采用聚合酶链反应(PCR)技术扩增AP1S3基因全部外显子,并进行测序。结果:107例GPP患者均未发现AP1S3基因突变以及单核苷酸多态性(SNP)位点。结论:本组GPP患者发病与AP1S3基因无关。Objective： To identify the gene mutation of AP1S3（ encoding the s1C subunit of the AP-1 complex） in 107 cases with generalized pustular psoriasis（ GPP） in Chinese Han populations. Methods： Genomic DNA was extracted from the peripheral blood. All the exons of AP1 S3 were amplified by PCR. Sanger sequencing was performed to screen the mutations in AP1 S3. Results： No mutation and single nucleotide polymorphism（ SNP） in AP1 S3 were detected in all GPP individuals. Conclusion： The mutation in AP1 S3 gene is not associated with GPP in this group of patients.

关 键 词：泛发性脓疱型银屑病 AP1S3 基因突变 

分 类 号：R440[医药卫生—诊断学] R758.63[医药卫生—临床医学]