摘要
目的探讨家族性慢性良性天疱疮(Hailey-Hailey disease,HHD)患者ATP2C1基因的突变情况。方法应用外周血DNA抽提、PCR和DNA直接测序等方法对中国非同族的2个HHD家系和2例散发患者的ATP2C1基因的27个外显子进行突变检测,并利用Pubmed和中国学术文献网络出版总库检索最近12年来国内外有关HHD患者ATP2C1基因突变分析的文献,统计分析结果。结果入组者发现1例剪切突变118-2A→G,1例错义突变K866T,1例无义突变S212X和1例缺失移码突变356fs2X。综述文献发现ATP2C1基因突变主要集中于3个功能区,此外还发现22外显子是亚洲人种HHD的高风险位点。结论这4例的突变方式目前国内外尚未见报道,可影响转录和翻译的结果,是造成相应家系和散发患者临床病变的特异突变。
Objective To identify the pathogenic mutations ofATP2C1 gene in Chinese patients with Hailey-Hailey disease （HHD）. Methods Genomic DNA was extracted from perpheral blood leukocytes. Techniques of PCR and direct sequencing were used to detect the mutations on all 27 exons of ATP2C1 gene in Chinese patients with HHD. The previous reports of HHD mutations in last 12 years were collected and summarized. Results We identified four novel mutations including 118-2A→G, K866T,S212X and 356fs2X. Our findings indicated that mutations were distributed more around function regions than others. Notably there was an Asian unique mutated region in the exon 22. Conclusion The four novel mutations is the underlying cause of HHD,which could affect the result of transcription and translation so as to alter the functions of protein encoded by ATP2C1 gene.
出处
《中国皮肤性病学杂志》
CAS
北大核心
2012年第9期776-778,785,共4页
The Chinese Journal of Dermatovenereology
基金
2009年国家自然科学基金项目(30901297)
2009年教育部博士点新教师基金项目(20090201120074)
中央高校基本科研业务费(2009
2012)
