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一个腘翼综合征(PPS)家系IRF6基因的突变检测 被引量：2

IRF6 gene mutation analysis in a popliteal pterygium syndrome family
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摘要 目的 :对一个翼综合征 (poplitealpterygiumsyndrome ,PPS)家系进行IRF6基因的突变检测。方法 :在IRF6 (interferonregulatoryfactor 6 )基因内设计引物扩增编码区及其邻近剪接内含子序列 ,经分段PCR(聚合酶链反应 )和DNA测序进行突变检测。结果 :在IRF6基因没有发现与表型一致的突变。结论 AIM:To investigate the IRF6 gene mutation in a popliteal pterygium syndrome (PPS) family.METHODS:PCR and DNA sequencing were employed to detect the coding sequence and splice junction intron sequence of IRF6 .RESULTS:No significant gene transformation showing complete segregation with the disease phenotypes was detected.CONCLUSION:PPS is caused either by mutations in IRF6 in uncoding region or by mutations in other gene.
作者 王晓方 刘嘉利 张海滨 肖明振 吴补领 吴子忠 胡蓝靛 孔祥银
机构地区 第四军医大学口腔医学院 中科院生命科学院健康科学中心 解放军第
出处 《牙体牙髓牙周病学杂志》 CAS 2003年第6期304-306,共3页 Chinese Journal of Conservative Dentistry
关键词 Guo翼综合征 缺牙 突变 popliteal pterygium syndrome hypodontia mutation
分类号 R780.2 [医药卫生—口腔医学]
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共引文献6

同被引文献27

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牙体牙髓牙周病学杂志
2003年 第6期

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