关键词: 基因, OSMR

Abstract: Guo Duyi, Kang Tianji, Yan Huimin, Zhao Huijuan, Jiang Wei Department of Dermatology, Peking University Third Hospital, Beijing 100191, China （Guo DY, Yan HM, Zhao HJ, Jiang W）; Functional Laboratory, Experimental Center for Teaching and Learning, Heilongjiang University of Chinese Medicine, Heilongjiang 150040, China （Kang TJ） Corresponding author: Jiang Wei, Email: jiangwei7366@163.com 【Abstract】 Objective To detect mutations in the OSMR gene in 2 Chinese families with familial primary cutaneous amyloidosis （FPCA）, and to analyze their relationship with clinical manifestations. Methods Clinical data were collected from 2 families with FPCA, and genomic DNA was extracted from peripheral blood samples. PCR was performed to amplify 18 exons and their flanking sequences of the OSMR gene followed by DNA sequencing in 2 probands and their family members. One hundred healthy individuals served as controls. Results In the first family, a heterozygous mutation （c.2081C > T） in exon 15 of the OSMR gene, which leads to a codon change at amino acid position 694 （p.P694L）, was identified in the proband, as well as in the other 4 patients. In the second family, a heterozygous mutation （c.1538G > A） in exon 11 of the OSMR gene, which causes a codon change at amino acid position 513 （p.G513D）, was identified in the other proband and her mother, suggesting the cosegregation of the gene mutation with the disease. None of the above mutations were detected in the healthy family members or controls. Conclusion The heterozygous mutations p.P694L and p.G513D in the OSMR gene may be associated with primary cutaneous amyloidosis.