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福建范德伍兹综合征1例家系IRF6基因突变的检测 被引量：1

IRF6 gene mutation analysis in Van der Woude syndrome family in Fujiar Province
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摘要 目的检测福建省一范德伍兹综合征(VWS)家系IRF6基因的突变。方法在IRF6(interferonregulatoryfactor6)基因内设计引物,经分段聚合酶链反应(PCR)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。结果在所有患者IRF6基因的第379密码子发现TGG>TGA(r.1400g→a)的碱基变化,该突变引入终止码,引起IRF6蛋白转录提前终止。结论范德伍兹综合征由IRF6基因突变引起,IRF6基因与唇腭、牙齿发育密切相关。 Objective To investigate IRF6 gene mutation in a Van der Woude syndrome （VWS） family in Fujian Province.Methods PCR and DNA sequencing were employed to detect the mutation of IRF6. Secondary construction transformation analysis was performed using PIX- Protein Identification software. Results A TGG 〉 TGA （ r. 1400g→a） transversion of IRF6 was identified in condon 379, which showed complete segregation with the disease phenotypes and introduced a stop signal into the transcription of IRF6. Conclusion VWS is caused by mutations in IRF6 gene.
作者 王晓方 杨春羚 张海兵 肖明振 史俊南 胡蓝靛 孔祥银
机构地区 第四军医大学口腔医学院牙体病科 泉州市第一人民医院口腔科 中科院生命科学院健康科学中心
出处 《口腔医学》 CAS 2006年第3期220-222,共3页 Stomatology
关键词 范德伍兹综合征 缺牙 腭裂 突变 Van der Woude syndrome hypodontia cleft palate mutation
分类号 R446.71 [医药卫生—诊断学]
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参考文献10

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同被引文献15

  • 1黄长波,阎寒松,陈昕,叶晓茜,边专,金辉喜.一个范德伍德综合征家系的IRF6基因突变检测[J].口腔医学研究,2006,22(3):322-325. 被引量：4
  • 2Dixon MJ,Marazita ML,Beaty TH,et al.Cleft lip and palate:understanding genetic and environmental influences[J].Nat Rev Genet,2011,12(3):167-178.
  • 3Dai L,Zhu J,Mao M,et al.Time trends in oral clefts in Chinese newborns:data from the Chinese National Birth Defects Monitoring Network[J].Birth Defects Res Clin Mol Teratol,2010,88(1):41-47.
  • 4Peyrard-Janvid M,Pegelow M,Koillinen H,et al.Novel and de novo mutations of the IRF6gene detected in patients with Van der Woude or popliteal pterygium syndrome[J].European Journal of Human Genetics,2005,13(12):1261-1267.
  • 5Bush JO,Jiang R.Palatogenesis:morphogenetic and molecula mechanisms of secondary palate development[J].Development,2012,139(4):231-243.
  • 6Mangold E,Ludwig KU,Nthen MM,et al.Breakthroughsin the genetics of orofacial clefting[J].Trends Mol Med,2011,17(12):725-733.
  • 7Letra A,Fakhouri W,Fonseca RF,et al.Interation between IRF6and TGF-αgenes contribute to the risk of nonsyndromic cleft lip/palate[J].PLoS One,2012,7:e45441.
  • 8Stottmann RW,Bjork BC,Doyle JB,et al.Identification of a Van der Woude syndrome mutation in the cleft palate 1mutant mouse[J].Genesis,2010,48(3):303-308.
  • 9Ferrero GB,Baldassarre G,Panza E,et al.A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6mutation.Review of the literature and of the differential diagnosis[J].European Journal of Pediatrics,2010,169(2):223-228.
  • 10Yeetong P,Mahatumarat C,Siriwan P,et al.Three novel mutations of the IRF6gene with one associated with an unusual feature in Van der Woude syndrome[J].American Journal of Medical Genetics Part A,2009,149A(11):2489-2492.

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口腔医学
2006年 第3期

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