| 1个河南van Der Woude综合征家系IRF6基因的突变检测 |
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| 引用本文： | 王晓方,肖明振,史俊南,张海兵,胡蓝靛,孔祥银.1个河南van Der Woude综合征家系IRF6基因的突变检测[J].上海口腔医学,2005,14(3):234-237. |
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| 作者姓名： | 王晓方 肖明振 史俊南 张海兵 胡蓝靛 孔祥银 |
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| 作者单位： | 第四军医大学口腔医学院,陕西,西安,710032;中国科学院生命科学院健康科学中心,上海,200025 |
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| 摘 要： | 目的:对1个河南省vanDerWoude综合征(VWS)家系进行IRF6基因的突变检测。方法:在IRF6(interferonregulatoryfactor6)基因内设计引物,经分段PCR(聚合酶链反应)和DNA测序,进行突变检测,运用PIX-ProteinIdentification软件对检测结果进行蛋白二级结构分析。结果:在该家系所有患者IRF6基因的第6密码子,均发现与表型一致的CGC>TGC(r.279c→t)突变,该突变引起IRF6蛋白二级预测结构的改变。结论:vanDerWoude综合征由IRF6基因突变引起,IRF6基因与唇、腭、牙的发育密切相关。
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| 关 键 词： | van Der Woude综合征 缺牙 腭裂 突变 |
| 文章编号： | 1006-7248(2005)03-0234-04 |
| 修稿时间： | 2004年6月14日 |
IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province |
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| WANG Xiao-fang,XIAO Ming-zhen,SHI Jun-nan,ZHANG Hai-bing,HU Lan-dian,KONG Xiang-yin.IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province[J].Shanghai Journal of Stomatology,2005,14(3):234-237. |
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| Authors: | WANG Xiao-fang XIAO Ming-zhen SHI Jun-nan ZHANG Hai-bing HU Lan-dian KONG Xiang-yin |
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| Institution: | School of Stomatology, Fourth Military Medical University, Xi'an, China. xiaofangwang18@163.com |
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| Abstract: | PURPOSE: To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province. METHODS: PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software. RESULTS: A CGC>TGC(r.279c-->t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6. CONCLUSION: VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth. |
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| Keywords: | van Der Woude syndrome Hypodontia Cleft palate Mutation |
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