中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (8): 513-517.doi: 10.12144/zgmfskin202208513

• 论著 • 上一篇    下一篇

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

马立文1,曾霓2,骆丹2   

  1. 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
  • 出版日期:2022-08-15 发布日期:2022-06-22

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

MA Liwen1, ZENG Ni2, LUO Dan2   

  1. 1 Department of Dermatology, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing 210008, China;
    2 Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University, Nanjing 210008, China
  • Online:2022-08-15 Published:2022-06-22

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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。

关键词: 色素异常性淀粉样变, 突变

Abstract: 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 IL31RA 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 IL31RA gene were amplified by PCR and sequenced. Results: No significant variant was found in exon 12-15 of OSMR gene and exon 12 of IL31RA gene in all members of this family. Conclusion: No significant variant was found in exon 12-15 of OSMR gene and exon 12 of IL31RA gene in all members, there may be other mutations in this family which needs further verification.

Key words: amyloidosis cutis dyschromica, mutation