原发性皮肤淀粉样变一家系OSMR基因突变研究  

Detection of OSMR gene mutation in a family with primary cutaneous amyloidosis

作　　者：张士发[1] 邢雪莎[2] 赵丽萍[1] 王艳红[1] 罗阳[2] 

机构地区：[1]沈阳军区总医院皮肤科,沈阳110016 [2]中国医科大学医学基因组学教研室教育部医学细胞生物学重点实验室,沈阳110122

出　　处：《中国麻风皮肤病杂志》2018年第2期70-73,共4页China Journal of Leprosy and Skin Diseases

基　　金：辽宁省博士科研启动基金指导计划项目(编号:201601137)

摘　　要：目的:明确原发性皮肤淀粉样变(PCA)的致病基因抑瘤素M受体(OSMR)突变情况。方法:提取一PCA家系3例患者及22名正常成员的外周血DNA,应用PCR扩增OSMR基因外显子,并对产物进行测序。结果:该家系3例患者OSMR基因的第15外显子中均检测出c.2081C>T(p.Pro694Leu)错义突变,而家系内正常人未见该突变。结论:该家系患者发病可能与OSMR基因第15外显子突变有关。Objective： To detect the pathogenetic gene mutation of OSMR in primary cutaneous amyloidosis（ PCA）. Methods： Genomic DNA was extracted from peripheral blood of 3 patients and 23 normal familial members. The exons 15 of OSMR gene were amplifyed by PCR and the products were directly sequenced. Results： Missense mutation（ c.2081 C〉T） of OSMR gene was identified in three patients,which was not found in the healthy family members.Conclusion： In this pedigree,the missense mutation of exon 15 of OSMR gene is related with the morbidity of PCA.

关 键 词：原发性皮肤淀粉样变病 抑瘤素M受体 基因突变 

分 类 号：R758.6[医药卫生—皮肤病学与性病学]