干扰素调节因子6基因多态性与非综合征型唇腭裂的相关性研究  

Association between interferon regulatory factor 6 gene polymorphism and non-syndromic oral clefting

作　　者：任红旺[1] 赵桂治[1] 黄永清[1,2] 马敏[2] 马坚[2] 孙衍波[1] 高军 石冰[4] 

机构地区：[1]宁夏医科大学口腔医院口腔颌面外科 [2]宁夏医科大学附属医院口腔颌面外科 [3]银川市口腔医院口腔颌面外科,宁夏银川750004 [4]四川大学华西口腔医学院口腔颌面外科学教研室,四川成都610041

出　　处：《华西口腔医学杂志》2010年第4期352-355,360,共5页West China Journal of Stomatology

基　　金：国家自然科学基金资助项目(30660198);教育部春晖计划启动基金资助项目(Z2008-1-75020)

摘　　要：目的探讨干扰素调节因子6(IRF6)基因rs642961和rs4844880位点单核苷酸多态性与非综合征型唇腭裂的相关性。方法收集宁夏地区非综合征型唇腭裂患者186例,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测IRF6基因多态位点rs642961和rs4844880基因型,进行病例对照分析、传递不平衡检验(TDT)。结果与正常对照组比较,唇裂组和唇腭裂组rs642961和rs4844880位点的AA基因型和A等位基因的频率存在统计学差异(P<0.05),腭裂组均没有意义(P=0.15,P=0.967);TDT研究发现IRF6基因rs642961位点的A等位基因和rs4844880位点的A等位基因在唇裂和唇腭裂患者中存在过传递(P<0.05);2个位点在腭裂组均没有统计学意义(P=0.91,P=0.95)。结论 IRF6基因多态性与非综合征型唇腭裂存在较强的相关性。Objective To investigate the association between interferon regulatory factor 6（IRF6） gene polymorphism and non-syndromic oral clefting（NSOC）.Methods Experimental group consisted of 186 Ningxia NSOC patients,their parents（183 fathers and 174 mothers）,172 core families（patient＋parents）,and control group consisted of 200 normal children.DNA was extracted and PCR-restriction fragment length polymorphism（PCR-RFLP） was used to identify the genotypes of the samples,case-control analyses and transmission-disequilibrium test（TDT） were carried out.Results Compared with control group,there were significant differences in both rs642961＇s and rs4844880＇s AA genotype and A allele among NSOC patients（P〈0.05）,but no difference in cleft palate（P=0.15,P=0.967,respectively）.In TDT analysis,the A allele of rs642961 had a strong over-transmission in NSOC（P〈0.05）,so did the rs4844880＇A allele（P〈0.05）,but neither of them had significant difference in cleft palate（P=0.91,P=0.95,respectively）.Conclusion IRF6 gene polymorphism is associated with NSOC.

关 键 词：非综合征型唇腭裂 干扰素调节因子6 单核苷酸多态性 

分 类 号：R782.2[医药卫生—口腔医学]