一个陕西汉族Van der Woude综合征家系IRF6基因的突变筛查  

Screen for IRF6 gene mutation in a Van der Woude syndrome family in Shanxi province

作　　者：王晓方[1] 李锦峰[2] 张海兵[3] 肖明振[1] 史俊南[1] 胡蓝靛[3] 孔祥银[3] 

机构地区：[1]西安第四军医大学口腔医学院,710032 [2]西安交通大学口腔医学院 [3]中科院生命科学院健康科学中心

出　　处：《北京口腔医学》2005年第1期50-52,共3页Beijing Journal of Stomatology

摘　　要：目的　对一个陕西省汉族VanderWoude综合征(VWS)家系进行IRF6基因的突变筛查。方法　在 IRF6(interferonregulatoryfactor6)基因内设计引物,经分段PCR(聚合酶链反应)包括剪切位点的9个外显子后 DNA测序进行突变筛查,运用PIX ProteinIdentification软件对检测结果进行蛋白二级结构分析。结果　在所有患 者IRF6基因的第2密码子发现与表型一致的GCC>GTC(r.268c→tNM214278)的突变,该突变引起IRF6蛋白二 级预测结构的改变。结论　该家系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 screen for IRF6 gene mutation in a Van der Woude syndrome (VWS) family in Shanxi province. Methods PCR and DNA sequencing were employed to detect the mutation of IRF6. Secondary construction transformation analysis was performed using PIX-Protein Identification software. Results A GCC > GTC (r.268c→t NM 214278) transversion of IRF6 was identified in condon 2, showed complete segregation with the disease phenotypes and was predicted transforming the secondary constructure of IRF6. Conclusion The VWS phenotype in this family is caused by mutation in IRF6 gene.

关 键 词：突变 筛查 家系 基因 综合征 汉族 蛋白 剪切位点 二级结构 密码子 

分 类 号：R596.1[医药卫生—内科学]