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目的探讨广东地区口面裂患者干扰素调节因子6(Interferon regulatory factor 6,IRF6)基因编码区序列的特点。方法收集广东籍口面裂患者及部分双亲血样共47例,包括1个Van der Woude综合征(van der Woude syndrome,VWS)患者核心家庭,NSCL/P患者40例,面横裂3例,正中裂3例;同时采取13例正常人血液样本做为对照,所有样本提取DNA后扩增IRF6基因的编码区,并进行序列测定和分析。结果共检测到3个突变位点。其中459G>T和820G>A两种突变在正常对照及未患病双亲中均被检出,NSCL/P组与正常对照组之间无差异(P>0.05)。1234C>T仅在VWS综合征患者中检出,与国际已报道的致病性突变一致。结论广东地区口面裂患者IRF6基因编码区存在三个突变,其中IRF6基因外显子9的1234C>T突变可能是广东地区VWS患者的一个致病因素。
Objective To investigate the sequence of the coding region of Interferon regulatory factor 6 (IRF6) gene in patients with oral cleft in Guangdong Province. METHODS: Forty-seven patients with oral split noodles and some blood samples from parents were enrolled in this study. They included 40 nuclear patients with Van der Woude syndrome (VWS), 40 patients with NSCL / P, 3 patients with transverse transverse dehiscence, 3 cases were divided into three groups. At the same time, 13 normal human blood samples were taken as control. All the samples were extracted DNA and the coding region of IRF6 gene was amplified and sequenced and analyzed. Results A total of 3 mutation sites were detected. Among them, 459G> T and 820G> A were detected in both normal control and non-affected parents, there was no difference between NSCL / P group and normal control group (P> 0.05). 1234C> T is only detected in patients with VWS syndrome, consistent with internationally reported pathogenic mutations. Conclusion There are three mutations in the coding region of IRF6 gene in patients with oral cleft in Guangdong. The 1234C> T mutation in exon 9 of IRF6 gene may be a causative agent of VWS in Guangdong area.