家族性原发性皮肤淀粉样变一家系的OSMR基因突变检测  

Mutation analysis of the OSMR gene in a family with familial primary cutaneous amyloidosis

作　　者：周云[1] 曹先伟[1] 许桂文[2] 吴红宣[1] 郭竹秀[1] 陈丽[1] 

机构地区：[1]南昌大学第一附属医院皮肤科,330006 [2]青岛大学医学院附属医院皮肤科

出　　处：《中华皮肤科杂志》2014年第8期591-592,共2页Chinese Journal of Dermatology

摘　　要：目的 检测家族性原发性皮肤淀粉样变一家系患者的OSMR基因突变情况.方法 收集一家族性皮肤淀粉样变家系临床资料,提取先证者及其19名相关亲属、50例无关健康对照外周血DNA,采用PCR扩增OSMR基因编码区的全部外显子及其侧翼序列并测序.结果 基因检测发现,先证者OSMR基因发生c.2081C＞T杂合突变,导致氨基酸出现p.P694L改变,家族中其他患者均发现同样突变位点,而家族健康成员及健康对照组均未检出此突变.结论 OSMR基因的p.P694L突变可能是导致患者出现皮肤淀粉样变临床表型的病因.Objective To identify mutations in the OSMR gene in a pedigree with familial primary cutaneous amyloidosis （FPCA）.Methods Clinical data were collected from a pedigree with FPCA.Peripheral blood samples were obtained from the proband,his 19 relatives,and 50 unrelated healthy human controls.Genomic DNA was extracted from these blood samples,and subjected to PCR for the amplification of 18 encoding exons and their flanking sequences of the OSMR gene followed by DNA sequencing.Results A heterozygous missense mutation c.2081C ＞ T,which leads to the substitution of proline by threonine at position 694,was detected in the OSMR gene of the proband and his affected relatives,but not in unaffected relatives or healthy controls.Conclusion The heterozygous mutation p.P694L in the OSMR gene may cause the clinical phenotype of FPCA in this family.

关 键 词：淀粉样变 家族性 OSMR基因 突变 误义 

分 类 号：R758.3[医药卫生—皮肤病学与性病学]