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TGFA基因rs 11466285多态性与东北地区非综合征性唇腭裂的关系

Relation between polymorphism of TGFA gene rs 11466285 and non-syndromic cleft lip and palate in Northeast China
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摘要 目的探讨转化生长因子α基因rs11466285位点与东北地区非综合征性唇腭裂的发病关系。方法采用基因芯片检测166例患者(病例组)和150例正常志愿者(对照组)rs11466285的基因型,并进行χ2分析。结果基因型和等位基因在病例组与对照组中比较均有显著性差异(P<0.01)。结论中国东北人群转化生长因子α基因rs 11466285多态与非综合征性唇腭裂的发病密切相关。 Objective To explore the relation between transforming growth factor α gene rs 11466285 and non-syndromic cleft lip and palate in Northeast China.Methods The detection by gene microarray was applied in showing the genotype of rs 11466285 in 166 patients (case group) and 150 healthy volunteers (control group). X2 analysis was also used in the detection.Results There was statistically significant difference of genotype and allele between patients and control group.Conclusion The relation between transforming growth factor α gene rs 11466285 and non-syndromic cleft lip and palate in Northeast China is closely correlated.
作者 胥威 卢永平
机构地区 辽宁省计划生育科学研究院
出处 《中国实用医药》 2015年第2期248-249,共2页 China Practical Medicine
基金 出生缺陷干预新技术的研究-唇腭裂易感基因检测芯片的研制(项目编号:2009225007-7)
关键词 非综合征性唇腭裂 转化生长因子 多态性 Non-syndromic cleft lip and palate Transforming growth factor Polymorphism
分类号 R782.2 [医药卫生—口腔医学]
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参考文献3

  • 1van den Boogaard MJ, Dorland M, Beemer FA, et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet, 2000, 24(4):342-343.
  • 2Machida J, Yoshiura K, Funkhauser CD, et al. Transforming growth factor-alpha (TGFA) : genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics, 1999, 61(3):237-242.
  • 3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

二级参考文献17

  • 1Stanier P, Moore GE. Genetics of cleft lip and palate : syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet, 2004,13 :R73-81.
  • 2Xiao PF, Cheng L, Wan Y, et al. An improved gel-based DNA microarray method for detecting single nucleotide mismatch. Electrophoresis, 2006,27:3904-3915.
  • 3van den Boogaard MJ, Dorland M, Beemer FA, et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat genet, 2000,24:342-343.
  • 4Gatta V, Scarciolla O, Cupaioli M,et al. A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. Mutat Res, 2004,547(1-2) :49-53.
  • 5Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod, 2004,26:7-16.
  • 6Ghassibe M, Revencu N, Bayet B, et al. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. J Med Genet, 2004,41 :e15.
  • 7Zucchero TM, Cooper ME, Maher BS,et al. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med, 2004,351:769-780.
  • 8Scapoli L, Palmieri A, Martinelli M, et al. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet, 2005,76 : 180-183.
  • 9Mann GB, Fowler K J, Gabriel A, et al. Mice with a null mutation of the TGFA gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation. Cell, 1993,73:249-261.
  • 10Luetteke NC, Qiu TH, Peiffer RL, et al. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved- 1 mice. Cell, 1993,73:263-278.

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中国实用医药
2015年 第2期

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