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寻常型鱼鳞病一家系Filaggrin基因突变检测 被引量：5

Filaggrin Mutation in a Family with Ichthyosis Vulgaris
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摘要 目的探讨一家系寻常型鱼鳞病(ichthyosis vulgaris,IV)丝聚合蛋白(filaggrin,FLG)基因的突变。方法提取IV患者及其家庭成员和100例健康对照者基因组DNA,采用PCR及直接测序法,对FLG基因已报道的13个突变位点(3321delA,441delA,1249insG,E1795X,S3296X,R501X,2282del4,R2447X,S2889X,7945delA,3702delG,Q2417X,R4307X)进行测序。结果三代7位成员中4例IV患者同时检测到FLG(441delA)基因突变。结论患者FLG(441delA)基因突变可能导致其发病。 Objective To detect filaggrin （FLG） mutations in a family with ichthyosis vulgaris （IV）. Methods Ge- nomic DNA was extract from the blood samples of a family with IV, and 100 normal human controls. PCR was carried out to amplify 13 FLG mutations （3321delA, 441delA, 1249insG, E1795X, S3296X, RS01X, 2282de14, R2447X, S2889X, 7945delA, 3702delG, Q2417X, Rd307X） followed by DNA sequencing. Results FLG mutation （441delA） were detected in four cases of the family. Conclusions Our finding suggest that filaggrin mutation could be related to the IV patients.
作者 韩春雷 孙澍彬 李常兴 沈宝贤 张锡宝 李雪梅 马泽粦 林东子
机构地区 东莞市慢性病防治院 南方医科大学附属东莞石龙人民医院 南海区疾病预防控制中心 广州市皮肤病防治所
出处 《中国皮肤性病学杂志》 CAS 北大核心 2011年第9期681-683,共3页 The Chinese Journal of Dermatovenereology
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 丝聚合蛋白 基因 突变 Ichthyosis vulgaris Filaggrin Gene Mutation
分类号 R758.5 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献12

  • 1Wells RS,Kerr CB.Genetic classification of ichthyosis[J].Arch Dermatol,1965,92 (1):1-6.
  • 2Gruber R,Janecke AR,Fanth C,et al.Filnggrin mutations p.R501X and c.2282de14 in ichthyosis vulgaris[J].Eur J Hum Genet,2006,15(2):179 -184.
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二级参考文献1

共引文献3

同被引文献19

  • 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.
  • 9刘玮.皮肤屏障功能解析[J].中国皮肤性病学杂志,2008,22(12):758-761. 被引量：62
  • 10李彩云,姜范波,梁羽,王威,杨玲,高扬,贾善刚,魏晓明,喻爽,汪建.中国寻常型鱼鳞病患者FLG基因变异的研究[J].中国现代医学杂志,2010,20(7):1067-1072. 被引量：4

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中国皮肤性病学杂志
2011年 第9期

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