寻常型鱼鳞病一家系Filaggrin基因突变检测  

Filaggrin Mutation in a Family with Ichthyosis Vulgaris

作　　者：韩春雷 孙澍彬[2] 李常兴 沈宝贤 张锡宝[4] 李雪梅[4] 马泽粦 林东子 

机构地区：[1]东莞市慢性病防治院,广东东莞523008 [2]南方医科大学附属东莞石龙人民医院,广东东莞523326 [3]南海区疾病预防控制中心,广东南海528200 [4]广州市皮肤病防治所,广东广州510095

出　　处：《中国皮肤性病学杂志》2011年第9期681-683,共3页The Chinese Journal of Dermatovenereology

基　　金：广东省医学科学技术研究基金资助项目(编号:B2010325)

摘　　要：目的探讨一家系寻常型鱼鳞病(ichthyosis vulgaris,IV)丝聚合蛋白(filaggrin,FLG)基因的突变。方法提取IV患者及其家庭成员和100例健康对照者基因组DNA,采用PCR及直接测序法,对FLG基因已报道的13个突变位点(3321delA,441delA,1249insG,E1795X,S3296X,R501X,2282del4,R2447X,S2889X,7945delA,3702delG,Q2417X,R4307X)进行测序。结果三代7位成员中4例IV患者同时检测到FLG(441delA)基因突变。结论患者FLG(441delA)基因突变可能导致其发病。Objective To detect filaggrin （FLG） mutations in a family with ichthyosis vulgaris （IV）. Methods Ge- nomic DNA was extract from the blood samples of a family with IV, and 100 normal human controls. PCR was carried out to amplify 13 FLG mutations （3321delA, 441delA, 1249insG, E1795X, S3296X, RS01X, 2282de14, R2447X, S2889X, 7945delA, 3702delG, Q2417X, Rd307X） followed by DNA sequencing. Results FLG mutation （441delA） were detected in four cases of the family. Conclusions Our finding suggest that filaggrin mutation could be related to the IV patients.

关 键 词：寻常型鱼鳞病 丝聚合蛋白 基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]