期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

汉族寻常型鱼鳞病丝聚合蛋白基因突变的研究 被引量：5

Filaggrin mutations in Chinese Han nationality patients with ichthyosis vulgaris
暂未订购
导出
摘要 目的:检测汉族寻常型鱼鳞病(Ⅳ)丝聚合蛋白基因的突变。方法:提取65例Ⅳ患者及70例健康对照者的基因组DNA,采用MassARRAY(r)分子量阵列技术分析丝聚合蛋白基因5个突变位点(3321delA,441delA,1249 insG,E1795X和S3296X)。结果:34例(52.31%)Ⅳ患者发现丝聚合蛋白3321delA基因突变,对照组有4例(5.71%)发生该基因突变;1例(1.54%)患者发现丝聚合蛋白441delA基因突变,对照组没有发现该基因突变。患者组及对照组均未见丝聚合蛋白1249insG,E1795X及S3296X基因突变。结论:丝聚合蛋白基因突变可能与汉族人群Ⅳ易感性相关。丝聚合蛋白33-21delA基因突变可能是汉族Ⅳ主要的突变位点。 Objective： To detect filaggfin mutations in Chinese Han nationality patients with ichthyosis vulgaris （Ⅳ）. Methods： Five filaggrin locus mutations （3321delA, 441delA, 1249insG, E1795X and S3296X） were detected by using the Sequenom/MassARRAY system in a cohort of 65 Chinese IV patients and in 70 control individuals. Results： Filaggrin mutation （3321delA） was found in 34（52.31% ） patients and in 4（5.71% ） healthy controls, respectively. Filaggrin mutation （441delA） was found in 1（1.54% ） patient. Filaggrin mutations （1249insG, E1795X and S3296X） were not found in these patients and controls. Conclusion： Our findings suggest that filaggrin mutations may be related with IV susceptibility in Chinese Han nationality. The filaggrin mutation （3321delA） represents the most frequent locus in Chinese IV patients.
作者 李常兴 李雪梅 张锡宝 胡斌 韩春雷 马泽舞 林东子
机构地区 广东东莞市慢性病防治院 广州市皮肤病防治所 中山大学达安基因中心
出处 《中国麻风皮肤病杂志》 2011年第2期90-92,共3页 China Journal of Leprosy and Skin Diseases
基金 广东省医学科学技术研究基金资助项目 编号:B2010325
关键词 寻常型鱼鳞病 汉族 丝聚合蛋白 多态性 单核苷酸 ichthyosis vulgaris Chinese Han nationality filaggrin polymorphism, mononucleotide
分类号 R758.52 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献11

  • 1Wells RS,Kerr CB.Genetic classification of ichthyosis.Arch Dermatol 1965;92(1):1-6.
  • 2Proksch E,F(o)lster-Holst R,Jensen JM.Skin barrier function,epidermal proliferation and differentiation in eczema.J Dermatol Sci 2006;43(3):159-169.
  • 3Gruber R,Janecke AR,Fauth C,et al.Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.Eur J Hum Genet 2006;15(2):179-184.
  • 4Smith FJ,Irvine AD,Terron-Kwiatkowski A,et al.Loss of function mutations in the gene encoding Filaggrin cause ichthyosis vulgaris.Nat Genet 2006;38(3):337-342.
  • 5Irvine AD,McLean WH.Breaking the unsound barrier:Filaggrin is a major gene for atopic dermatitis.J Invest Dermatol 2006;126(6):1200-1202.
  • 6Proksch E,F(o)lster-Holst R,Brutigam M,et al.Role of the epidermal barrier in atopic dermatitis.J Dtsch Dermatol Ges 2009;7(10):899-910.
  • 7Presland RB,Boggess D,Lewis SP,et al.Loss of normal profilaggrin and \filaggrin in flaky tail (ft/ft) mice:an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris.J Invest Dermatol 2000;115(6):1072-1081.
  • 8Oji V,Seller N,Sandilands A,et al.Ichthyosis vulgaris:novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.Br J Dermatol 2009;160(4):771-781.
  • 9Nomura T,Akiyama M,Sandilands A,et al.Specific Filaggrin mutations cause ichthyosisvulgaris and are significantly associated with atopicdermatitis in Japan.J Invest Dermatol 2008;128(6):1436-1441.
  • 10Chen H,Ho JC,Sandilands A,et al.Unique and recurrent mutations in the Filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris.J Invest Dermatol 2008;128(10):1669-1675.

同被引文献32

  • 1Smith FJ, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of- function mutations in the gene encoding filaggrin cause ichthyosis vulgaris[ J ]. Nat Genet, 2006, 38(3): 337-342.
  • 2Wells RS, Kerr CB. Genetic classification of ichthyosis [J ]. Arch Dermatol, 1965, 92( 1 ): 1-6.
  • 3DiGiovanna JJ, Robinson-Bostom L. Ichthyosis: etiology, diagnosis, and management[ J ]. Am J Clin Dermatol, 2003, 4(2): 81-95.
  • 4Chen H, Ho JC, Sandilands A, et al. Unique and reeurrent mutations in the filaggrin gene in Singaporean Chinese patients with iehthyosis vulgaris[ J ]. J Invest Dermatol, 2008, 128( 10): 1669- 1675.
  • 5Oji V, Seller N, Sandilands A, et al. Iehthyosis vulgaris: novel FLG mutations in the German population and high presenee of CDla^+ eells in the epidermis of the atopie subgroup [J ]. Br J Dermatol, 2009, 160(4): 771-781.
  • 6Kang TW, Lee JS, Oh SW, et al. Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgafis and atopic dermatitis [J]. Dermatology, 2009, 218(2): 186-187.
  • 7Nomura T, Akiyama M, Sandilands A, et al. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated withatopic dermatitis in Japan [ J ]. J Invest Dermatol, 2008, 128(6): 1436-1441.
  • 8Takizawa Y, Akiyama M, Nagashima M, et al. A novel asparagine->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens[ J ]. J Invest Dermatol, 2000, 114( 1 ): 193-195.
  • 9LIU Z,ZHOU Y,CHEN RY,et al.Symmetrical acrokeratodenna : A peculiar entity in China? Clinicopathologic and immunopathologic study of 34 new cases [J].J Am Acad Demiatol,2014,70(3):533-538.
  • 10LI CX,HAN CL,ZENG K,et al.Clinical,demographic and histopathological features of symmetrical acral keratoderma [J].BrJ Dermatol,2014,170:948-951.

引证文献5

二级引证文献11

中国麻风皮肤病杂志
2011年 第2期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部