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

doi:10.12144/zgmfskin202208513

Abstract

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

MA Liwen, ZENG Ni, LUO Dan. Mutation of the related gene in a family with amyloidosis cutis dyschromica after puberty[J].China Journal of Leprosy and Skin Diseases, 2022, 38(8): 513-517.

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

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