原发性皮肤淀粉样变一家系OSMR基因突变研究

摘要

目的:明确原发性皮肤淀粉样变(PCA)的致病基因抑瘤素M受体(OSMR)突变情况.方法:提取一PCA家系3例患者及22名正常成员的外周血DNA,应用PCR扩增OSMR基因外显子,并对产物进行测序.结果:该家系3例患者OSMR基因的第15外显子中均检测出c.2081C>T(p.Pro694Leu)错义突变,而家系内正常人未见该突变.结论:该家系患者发病可能与OSMR基因第15外显子突变有关.%Objective:To detect the pathogenetic gene mutation of OSMR in primary cutaneous amyloidosis (PCA). Methods: Genomic DNA was extracted from peripheral blood of 3 patients and 23 normal familial members. The exons 15 of OSMR gene were amplifyed by PCR and the products were directly sequenced. Re-sults:Missense mutation (c.2081C>T) of OSMR gene was identified in three patients, which was not found in the healthy family members.Conclusion:In this pedigree,the missense mutation of exon 15 of OSMR gene is related with the morbidity of PCA.