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家族性良性天疱疮ATP2C1基因突变研究 被引量:1

Mutation analysis of ATP2C1 gene in patients with Hailey-Hailey disease
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摘要 目的 探讨家族性良性天疱疮5个散发病例的ATP2C1基因突变.方法 5例来自门诊的散发病例,采集外周血,提取基因组DNA,采用PCR和DNA直接测序的方法,检测5个散发家族性良性天疱疮患者的ATP2C1基因突变,在100例正常人对照中予以验证.结果在5例具有典型临床表现,经皮肤病理和免疫病理确诊的散发家族性良性天疱疮患者,检测到5个未曾报道的ATP2C1基因突变位点,包括1个缺失突变(2025delG),3个错义突变(L269R,C348R,A651D),和1个无义突变(Q259x).100例正常人对照中均未检测到上述突变.结论 发现家族性良性天疱疮新的ATP2C1基因突变位点. Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease (HHD).Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent.Blood samples were taken from all patients and 100 unrelated human controls.and DNA was extracted from these samples.Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction (PCR) and direct sequencing.Results The diagnosis of all cases was confirmed by typical clinical manifestation,cutaneous pathology and immunofluorescence pathology.Five novel mutations.including a deletion mutation (2025delG),three missence mutations (L269R,C348R,A651D) and a non-sense mutation (Q259X) were identified in these cases.No mutations were detected in any of the 100 controls.Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2010年第6期393-395,共3页 Chinese Journal of Dermatology
基金 山东省自然科学基金(Y2006C95)
关键词 天疱疮 良性家族性 基因 ATP2C1 突变 Pemphigus,benign familial Genes,ATP2C1 Mutation
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参考文献7

  • 1Hu Z,Bonifas JM,Beech J,et al.Mutations in ATP2C1,encoding a calcium pump,cause Hailey-Hailey disease.Nat Genet,2000,24(1):61-65.
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二级参考文献14

  • 1陈思远,黄长征,李家文.家族性良性天疱疮一家系ATP2C1基因突变的检测[J].中华皮肤科杂志,2004,37(9):550-550. 被引量:11
  • 2颜潇潇,蒋德科,张福仁,田洪青,周桂芝,卢宪梅,余龙.家族性良性天疱疮基因突变研究[J].中华皮肤科杂志,2006,39(6):308-310. 被引量:8
  • 3Hu Z, Bonifas JM, Beech J, et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet, 2000, 24( 1 ): 61-65.
  • 4Sudbrak R, Brown J, Dobson-Stone C, et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet, 2000, 9(7): 1131-1140.
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  • 7Zhang F, Yah X, Jiang D, et al. Eight novel mutations of ATP2C1 identified in 17 Chinese families with Hailey-Hailey disease. Dermatology, 2007, 215(4): 277-283.
  • 8Li X, Xiao S, Peng Z, et al. Two novel mutations of the ATP2C1 gene in Chinese patients with Hailey-Hailey disease. Arch Dermatol Res, 2007, 299(4): 209-211.
  • 9Ma YM, Zhang XJ, Liang YH, et al. Genetic diagnosis in a Chinese Hailey-Hailey disease pedigree with novel ATP2CI gene mutation. Arch Dermatol Res, 2008, 300(4): 203-207.
  • 10Zhang ZZ, Liang YH, Quan C, et al. Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease. Br J Dermatol, 2008, 158(4): 831-833.

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