家族性原发性皮肤淀粉样变性两家系OSMR基因突变  

Mutation analysis of the OSMR gene in two Chinese families with familial primary cutaneous amyioidosis

作　　者：郭独一 康天济[2] 闫慧敏[1] 赵惠娟[1] 姜薇[1] Guo Duyi Kang Tianji Yan Huimin Zhao Huijuan Jiang Wei(Department of Dermatology, Peking University Third Hospital, Beijing 100191, China Functional Laboratory, Experimental Center for Teaching and Learning, Heilongjiang University of Chinese Medicine, Heilongjiang 150040, China)

机构地区：[1]北京大学第三医院皮肤科,100191 [2]黑龙江中医药大学教学实验中心机能实验室

出　　处：《中华皮肤科杂志》2017年第2期91-94,共4页Chinese Journal of Dermatology

基　　金：国家自然科学基金（81201216）

摘　　要：目的检测家族性原发性皮肤淀粉样变性两个家系OSMR基因突变情况并分析与临床表现的关系。方法收集两个原发性皮肤淀粉样变性家系的临床资料，提取外周血DNA，采用PCR技术扩增两例先证者及其家属OSMR基因18个外显子及其侧翼序列并测序，并以100例健康人作为对照。结果第1个家系先证者OSMR基因第15号外显子发生c．2081C〉T杂合突变，导致氨基酸序列出现p．P694L改变，家族中其他4例患者均带有相同突变位点。第2个家系先证者OSMR基因第11号外显子发生c．1538G〉A杂合突变，导致氨基酸序列出现p．G513D改变，其母亲也带有相同突变位点，突变位点与疾病符合共分离。两家系中健康成员及100例健康对照者均未发现相应突变。结论OSMR基因p．P694L和p．G513D突变可能与原发性皮肤淀粉样变性有关。Objective To detect mutations in the OSMR gene in 2 Chinese families with familial primary cutaneous amyloidosis （FPCA）, and to analyze their relationship with clinical manifestations. Methods Clinical data were collected from 2 families with FPCA, and genomie DNA was extracted from peripheral blood samples. PCR was performed to amplify 18 exons and their flanking sequences of the OSMR gene followed by DNA sequencing in 2 probands and their family members. One hundred healthy individuals served as controls. Results In the first family, a heterozygous mutation （c.2081C 〉 T） in exon 15 of the OSMR gene, which leads to a codon change at amino acid position 694 （p.P694L）, was identified in the proband, as well as in the other 4 patients. In the second family, a heterozygous mutation （c.1538G 〉 A） in exon 11 of the OSMR gene, which causes a codon change at amino acid position 513 （p.G513D）, was identified in the other proband and her mother, suggesting the eosegregation of the gene mutation with the disease. None of the above mutations were detected in the healthy family members or controls. Conclusion The heterozygous mutations p.P694L and p.G513D in the OSMR gene may be associated with primary cutaneous amyloidosis.

关 键 词：淀粉样变 家族性 系谱 突变 皮肤表现 基因 OSMR 

分 类 号：R758.6[医药卫生—皮肤病学与性病学]