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

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.