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

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.