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非综合征型唇腭裂易感基因的研究进展 被引量:3

Recent Advances on Susceptible Gene Loci Involved in Nonsyndromic Cleft Lip and/or Palate
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摘要 唇腭裂(cleft lip and palate,CLP)是常见的先天性发育畸形,全世界发病率为1/500~1/1 000。我国为唇腭裂高发国家,发病率高达1.82‰,总发生率占我国出生缺陷的14.01%。
出处 《口腔颌面外科杂志》 CAS 2012年第1期68-72,共5页 Journal of Oral and Maxillofacial Surgery
关键词 非综合征型唇腭裂 基因 位点 nonsyndromic cleft lip and/or palate(NSCL/P) genes locus
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参考文献47

  • 1van Rooij IA,Vermeil-Keers C,Kluijtmans LA,et al.Doesthe interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without palate[J].Am J Epidemi-ol,2003,157(7):583-591.
  • 2Pezzetti F,Martinelli M,Scapoli L,et al.Maternal MTH-FR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate[J].Hum Mutat,2004,24(1):104-105.
  • 3万伟东,王丽君,周小平,周德兰,章庆国,黄金龙,王小宁.MTHFR基因C677T和A1298C多态与中国部分人群非综合征性唇腭裂的相关研究[J].中华整形外科杂志,2006,22(1):8-11. 被引量:34
  • 4Zhu JH,Ren AG,Hao L,et al.Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China[J].Am J Med Genet A,2006,140(6):551-557.
  • 5Zucchero TM,Cooper ME,Maher BS,et al.Interferon reg-ulatory factor6(IRF6)gene variants and the risk of iso-lated cleft lip or palate[J].N Engl J Med,2004,351(8):769-780.
  • 6Scapoli L,Palmieri A,Martinelli M,et al.Strong evidence of linkage disequilibrium between polymorphisms at the IRF6locus and nonsyndromic cleft lip with or without cleft palate,in an Italian population[J].Am J Hum Genet,2005,76(1):180-183.
  • 7Blanton SH,Cortez A,Stal S,et al.Variation in IRF6con-tributes to nonsyndromic cleft lip and palate[J].Am J Med Genet A,2005,137(3):259-262.
  • 8沈亚,程璐,万伟东,陆祖宏,廖联明,崔毓桂,刘嘉茵.非综合征性唇腭裂与干扰素调节因子6和转化生长因子α单核苷酸多态性的相关性[J].中华检验医学杂志,2007,30(12):1349-1353. 被引量:9
  • 9黄永清,马敏,马坚,李亚娣,李迎春,王珑,高军,张雷,乔光伟,石冰.中国西部人群IRF6基因SNPs与非综合征型唇腭裂相关性的研究[J].实用口腔医学杂志,2010,26(2):227-231. 被引量:8
  • 10Ardinger HH,Buetow KH,Bell GI,et al.Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate[J].Am J Hum Genet,1989,45(3):348-353.

二级参考文献94

  • 1房洪波,王蓓.唇腭裂患者1309例临床资料分析[J].实用口腔医学杂志,2004,20(4):502-503. 被引量:4
  • 2Prescott NJ,Winter RM,Malcolm S.Nonsyndromic cleft lip and palate:complex genetics and environmental effects.Ann Hum Genet,2001,65:505-515.
  • 3Vieira AR,Orioli IM.Candidate genes for nonsyndromic cleft lip and palate.ASDC J Dent Child,2001,68:272-279,229.
  • 4Martinelli M,Scapoli L,Pezzetti F,et al.C677T variant form at the MTHFR gene and CL/P:a risk factor for mothers? Am J Med Genet,2001,98:357-360.
  • 5Passos-Bueno MR,Steman MAS.Role of the C677T polymorphim at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate:results from a case-control study in Brazil.Am J Med Genet,1999,87:197-199.
  • 6Jugessur A,Wilcox AI.Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads.Am J Epidemiol,2003,157:1083-1091.
  • 7Prescott NJ,Malcolm S.Folate and the face:evaluating the evidence for the influence of folate genes on craniofacial development.Cleft Palate Craniofac J,2002,39:327-331.
  • 8Van Der,Put NMJ,Gabreels F.A second common multation in methylenetetrahydrofolate reductae gene:an additional risk fact or for neuraltube defects.Am J Hum Genet,1998,62:1044-1051.
  • 9Van Rooij IA,Vermeij-Keers C,Kluijtmans LA,et al.Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol,2003,157:583-591.
  • 10Lidral AC,Murray JC.Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model[J].Birth Defects Res A Clin Mol Teratol,2004,70(12):893-901.

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