一个腘翼综合征(PPS)家系IRF6基因的突变检测  

IRF6 gene mutation analysis in a popliteal pterygium syndrome family

作　　者：王晓方[1] 刘嘉利[1] 张海滨[2] 肖明振[1] 吴补领[1] 吴子忠[3] 胡蓝靛[2] 孔祥银[2] 

机构地区：[1]第四军医大学口腔医学院,陕西西安710032 [2]中科院生命科学院健康科学中心,上海200025 [3]解放军第88医院,山东泰安271000

出　　处：《牙体牙髓牙周病学杂志》2003年第6期304-306,共3页Chinese Journal of Conservative Dentistry

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.

关 键 词：Guo翼综合征 缺牙 突变 

分 类 号：R780.2[医药卫生—口腔医学]