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 赵桂治 黄永清 马敏 马坚 孙衍波 高军 石冰
Author：REN Hong -wang1, ZHAO Gui -zhi1, HUANG Yong -qing1，2, MA Min2, MA Jian2, SUN Yan -bo1, GAO Jun3, SHI Bing4
收稿日期：2010-08-25 年卷（期）页码：2010,28(04):352-352-355
期刊名称：华西口腔医学杂志
Journal Name：West China Journal of Stomatology
关键字：非综合征型唇腭裂,干扰素调节因子6,单核苷酸多态性,
Key words：non-syndromic oral clefting,interferon regulatory factor 6,single nucleotide polymorphism,
基金项目：
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）
中文摘要
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（PCRRFLP）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
英文摘要
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
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