1个河南van Der Woude综合征家系IRF6基因的突变检测  

IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan 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]中国科学院生命科学院健康科学中心,上海200025

出　　处：《上海口腔医学》2005年第3期234-237,共4页Shanghai Journal of Stomatology

摘　　要：目的:对1个河南省vanDerWoude综合征(VWS)家系进行IRF6基因的突变检测。方法:在IRF6(interferonregulatoryfactor6)基因内设计引物,经分段PCR(聚合酶链反应)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二级结构分析。结果:在该家系所有患者IRF6基因的第6密码子,均发现与表型一致的CGC>TGC(r.279c→t)突变,该突变引起IRF6蛋白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、牙的发育密切相关。PURPOSE:To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province. METHODS: PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software. RESULTS: A CGC > TGC(r.279c→t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6. CONCLUSION: VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.

关 键 词：VAN Der Woude综合征 缺牙 腭裂 突变 

分 类 号：R782[医药卫生—口腔医学]