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 a mutant of IRF6 gene in a Chinese Han VanderWoude syndrome (VWS) family in Shaanxi Province. Methods Primers were designed in IRF6 gene and sequenced by sequencing PCR (polymerase chain reaction) including 9 exons at the cleavage site. The results were analyzed by PIX Protein Identification software. Structural Analysis. Results A mutation in GCC> GTC (r.268c → tNM214278) consistent with the phenotype was found at codon 2 of IRF6 gene in all patients, which led to a change in the secondary predicted structure of IRF6 protein. Conclusion The family VanderWoude syndrome is caused by the mutation of IRF6 gene. The IRF6 gene is closely related to the development of the lips, palate and teeth.