广东地区口面裂患者IRF6基因编码区序列特点分析  

The analysis for the coding region of IRF6 gene of orofacial clefts in Guangdong Province

作　　者：邬文莉[1] 华亮[2] 王洪涛[3] 黎凡[3] 

机构地区：[1]广州医学院,硕士研究生广州510120 [2]广州医学院附属妇女儿童医疗中心中心实验室,广州510120 [3]广州医学院附属妇女儿童医疗中心口腔科,广州510120

出　　处：《中国优生与遗传杂志》2011年第8期12-14,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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 reveal the sequence variations for the coding region of IRF6 gene of orofacial clefts in Guangdong Province.Methods：Genomic DNA from 47 orofacial cleft patients and 13 controls were extracted.Complete coding sequences of the IRF6 gene were amplified and sequenced directly.Results：Three mutations were found.459GT and 820GA were detected both in controls and unaffected members in family.There were no differences in genetic frequency of 459GT and.820GA between NSCL/P group and control group（P0.05）.1234CT was detected in Van der Woude syndrome patients only,and the mutation has been reported in VWS patients previously.Conclusion：Among the three mutations,the 1234CT mutation in exon 9 of IRF6 gene may be one of the risk factor of VWS patients in Guangdong Province.

关 键 词：唇腭裂 面裂 干扰素调节因子6(IRF6)基因 编码区 基因突变 

分 类 号：R782.2[医药卫生—口腔医学]