青春期后发病的色素异常性皮肤淀粉样变家系相关基因突变研究  

Mutation of the related gene in a family with amyloidosis cutis dyschromica after puberty

作　　者：马立文 曾霓 骆丹 MA Liwen;ZENG Ni;LUO Dan(Department of Dermatology,Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University,Nanjing 210008,China;Department of Dermatology,The First Affiliated Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学鼓楼临床医学院皮肤性病科,江苏南京210008 [2]南京医科大学第一附属医院皮肤性病科,江苏南京210008

出　　处：《中国麻风皮肤病杂志》2022年第8期513-517,共5页China Journal of Leprosy and Skin Diseases

摘　　要：目的:青春期后发病的色素异常性皮肤淀粉样变少见,本文报道一家系,并检测该家系中OSMR及IL31RA基因的突变情况。方法:经知情同意后采集该先证者及家系4例患者外周血后用PCR扩增OSMR基因第12~15号外显子和IL31RA基因12号外显子并进行测序。结果:该家系所有成员OSMR基因第12~15号外显子和IL31RA基因第12号外显子均未发现明显突变。结论:该家系未在OSMR基因第12~15号外显子和IL31RA基因第12号外显子发现突变,可能存在其他基因突变位点有关,需要进一步验证。Objective:Amyloidosis cutis dyschromica(ACD)occurring after puberty is rare,herein,we report a family of ACD occurring after puberty and detect the variants of OSMR and IL31 RA genes in this family.Methods:The peripheral blood of the proband and other 4 patients in family were collected with informed consent,and the exon 12-15 of OSMR gene and exon 12 of IL31 RA gene were amplified by PCR and sequenced.Results:No significant variant was found in exon 12-15 of OSMR gene and exon 12 of IL31 RA gene in all members of this family.Conclusion:No significant variant was found in exon 12-15 of OSMR gene and exon 12 of IL31 RA gene in all members,there may be other mutations in this family which needs further verification.

关 键 词：色素异常性淀粉样变 突变 

分 类 号：R751[医药卫生—皮肤病学与性病学]