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中国人群非综合征性唇腭裂患者IRF6基因突变检测 被引量：3

Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate
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摘要 目的:探讨干扰素调节因子6(interferon regulatory factor 6,IRF6)在非综合征性唇腭裂(non-sydromic cleft lip and/or cleft palate,NSCL/P)患者中的突变情况。方法:收集119例NSCL/P患者及288名健康人对照样本的外周血血样并提取DNA。在IRF6基因的全部外显子分别设计引物,PCR扩增其序列,通过测序找出IRF6基因突变,并将这些突变在对照样本中进行验证。结果:共发现5种在正常人中没有的突变,其中4种是新发现的突变。结论:IRF6基因突变在中国人群中参与了非综合征唇腭裂疾病的发生。 PURPOSE： To investigate interferon regulatory factor 6 gene（IRF6） mutation in Chinese non-syndromic cleft lip and/or cleft palate（NSCL/P） patients. METHODS： The peripheral blood of NSCL/P cases and control samples were collected and DNA was extracted. Exons of IRF6 gene were amplified by polymerase chain reaction. IRF6 mutations were detected using direct sequencing and compared with control samples. RESULTS： Five mutations were discovered in patients with NSCL/P, including 4 novel mutations. CONCLUSIONS： Mutation of IRF6 gene involved in the occurrence of NSCL/P in Chinese population.
作者 陈嘉珮 牛振民 乌丹旦 杨育生 黄薇 陈振琦
机构地区 上海交通大学医学院附属第九人民医院·口腔医学院口腔正畸科 上海市疾病与健康基因组学实验室-省部共建国家重点实验室培育基地 上海交通大学医学院附属第九人民医院·口腔医学院口腔颅颌面科
出处 《中国口腔颌面外科杂志》 CAS 2014年第4期333-336,共4页 China Journal of Oral and Maxillofacial Surgery
基金 上海市科学技术委员会科研计划项目(124119b0103)~~
关键词 非综合征性唇腭裂 干扰素调节因子6基因 基因突变 Non-syndromic cleft lip and/or cleft palate NSCL/P Interferon regulatory factor 6 gene IRF6 Gene mutation
分类号 R782.2 [医药卫生—口腔医学]
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参考文献20

  • 1Mossey PA, Modell B. Epidemiology of oral clefts 2012: an international perspective [J]. Frnnt Oral Biol, 2012, 16: 1-18.
  • 2Johnston J J, Sapp JC, Turner JT, et al. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations [J]. Hum Mutat, 2010, 31(10): 1142-1154.
  • 3Laumonnier F, Holbert S, Ronce N, et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate [J]. J Med Genet, 2005, 42(10): 780-786.
  • 4Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome [J]. Cell, 1996, 85(6): 841-851.
  • 5Murray JC. Gene/environment causes of cleft lip and/or palate [J]. Clin Genet, 2002, 61(4): 248-256.
  • 6Dixon 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.
  • 7Bimbanm S, Ludwig KU, Reutter H, et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 [J]. Nat Genet, 2009, 41(4): 473-477.
  • 8Mangold E, Ludwig KU, Birnbaum S, et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate [J]. Nat Genet, 2010, 42(1): 24-26.
  • 9Grant SF, Wang K, Zhang H, et al. A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24 [J]. J Pediatr, 2009, 155(6): 909-913.
  • 10Beaty TH, Murray JC, Marazita ML, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 [J]. Nat Genet, 2010, 42(6): 525-529.

二级参考文献10

  • 1Murray JC,Nishimura DY,Buetow KH,et al.Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q.Am J Hum Genet,1990,46∶486-491.
  • 2Schutte BC,Bjork BC,Coppage KB,et al.A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.Genome Res,2000,10∶81-94.
  • 3Kondo S,Schutte BC,Richardson RJ,et al.Mutations inIRF6 cause Van der Woude and popliteal pterygium syndromes.Nat Genet,2002,32∶285-289.
  • 4Eroshkin A,Mushegian A.Conserved transactivation domain shared by interferon regulatory factors and Smad morphogens.J Mol Med,1999,77∶403-405.
  • 5Mamane Y,Heylbroeck C,Genin P,et al.Interferon regulatory factors:the next generation.Gene,1999,237∶1-14.
  • 6Au WC,Yeow WS,Pitha PM.Analysis of functional domains of interferon regulatory factor 7 and its association withIRF-3.Virology,2001,280∶273-282.
  • 7Brivanlou AH,Darnell JE.Signal transduction and the control of gene expression.Science,2002,295∶813-818.
  • 8Ghassibe M,Revencu N,Bayet B,et al.Six families with van der Woude and/or popliteal pterygium syndrome:all with a mutation in theIRF6 gene.J Med Genet,2004,41∶e15.
  • 9Wang X,Liu J,Zhang H,et al.Novel mutations in theIRF6 gene for Van der Woude syndrome.Hum Genet,2003,113∶382-386.
  • 10Item CB,Turhani D,Thurnher D,et al.Van Der Woude syndrome:variable penetrance of a novel mutation (p.Arg 84Gly) of theIRF6 gene in a Turkish family.Int J Mol Med,2005,15∶247-251.

共引文献6

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二级引证文献10

中国口腔颌面外科杂志
2014年 第4期

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