一例Van der Woude综合征家系IRF6基因突变的检测  

IRF6 gene mutation analysis in a Van der Woude syndrome family in Hebei province

作　　者：王晓方[1] 肖明振[1] 史俊南[1] 张海兵[2] 胡蓝靛[2] 孔祥银[2] 

机构地区：[1]第四军医大学口腔医学院,陕西西安710032 [2]中科院生命科学院健康科学中心

出　　处：《临床口腔医学杂志》2004年第12期744-746,共3页Journal of Clinical Stomatology

摘　　要：目的 :对一例河北峪金矿VanderWoude综合征 (VWS)家系进行IRF6基因突变的检测。方法 :在IRF6(interferonregulatoryfactor 6)基因内设计引物 ,经分段聚合酶链反应 (PCR)和DNA测序进行突变检测 ,运用PIX ProteinIdentification软件对检测结果进行蛋白质二级结构分析。结果 :在所有患者IRF6基因的第 40 0密码子发现与表型一致的CGG >TGG (r .14 61c→t)的突变 ,该突变引起IRF6蛋白质二级预测结构的改变。结论 :VanderWoude综合征由IRF6基因突变引起 ,IRF6基因与唇腭、牙齿发育密切相关。Objective:To investigate IRF6 gene mutation in a Van der Woude syndrome (VWS) family in Hebei province. Method:PCR and DNA sequencing were employed to detect the mutation of RF6 Secondary construction transformation analysis was performed using PIX-Protein Identification software.Result:CGG >TGG (r.1461c→t) transversion of IRF6 was identified in condon 400, showed complete segregation with the disease phenotypes and was predicted transforming the secondary constructure of IRF6.Conclusion: VWS is caused by mutations in IRF6 gene.

关 键 词：VanDerWoude综合征 缺牙 腭裂 突变 

分 类 号：R780.2[医药卫生—口腔医学]