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毛囊闭锁三联征一家系调查及基因研究 被引量：2

Genetic study in an acne inversa family
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摘要 目的:确定一毛囊闭锁三联征(AI)家系的临床特点及易感位点连锁情况。方法:调查该家系临床资料,用1p21.1-1q25.3,6q25.1-25.2,D19S911-D19S1170和19q13.1-19q13.2易感基因位点附近的19个微卫星标记对该家系进行基因分型、连锁分析和单倍型分析。结果:该家系4代39人中13例患毛囊闭锁三联征,男8例,女5例,每代均有个体发病,符合常染色体显性遗传模式。经分析未发现上述位点与该家系存在连锁关系。结论:推断有新的易感位点与AI的发生有关,提示AI具有遗传异质性。 Objective： To investigate clinical characteristics and sensitive region in patients with acne inversa （AI） of a Chinese family. Methods： The clinical findings were analized, and a linkage analysis with 19 microsatellite markers was performed at regions lp21.1 - lq25.3,6q25.1 - 25.2, D19S911 - D19Sl170 and 19q13.1 - 19q13.2 using linkage program and haplotype in a Chinese family with M. Results： Thirteen patients （8 males 5 females） out of 39 family members in four generations were suffering AI, suggesting autosomal dominant inheritance. No linkage with genetic regions mentioned above was found. Conclusion： The results suggest that AI is genetically heterogeneous disorder.
作者 孟谨 周青 陈玉 赵敬军 胡松年
机构地区 福建医科大学附属协和临床学院皮肤科 福建福清市医院皮肤科 中科院北京基因组研究所
出处 《中国麻风皮肤病杂志》 2011年第8期533-536,共4页 China Journal of Leprosy and Skin Diseases
基金 国家自然科学基金(编号:81071329)
关键词 毛囊闭锁三联征 家系 连锁分析 易感位点 acne inverse pedigree linkage analysis susceptibility region
分类号 R758.6 [医药卫生—皮肤病学与性病学]
  • 相关文献

参考文献10

  • 1Wolkenstein P, Loundou A, Barrau K, et al. Quality of life impairment in hidradenitis suppurativa: A study of 61 cases. J Am Acad Dermatol 2007; 56(4) : 621 - 623.
  • 2O' Connell JR, Weeks DE. Pedcheck: A program for identification of genotype incomepatibilities in linkage analysis. Am J Hum Genet 1998;63(1) :259 - 266.
  • 3Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984;36(2) :460 - 465.
  • 4Kruglyak L, Daly MJ, Reeve - Daly MP, et al. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996;58(6):1347- 1363.
  • 5Revuz JE, Canoui- Poitrine F, Wolkenstein P, et al. Prevalence and factors associated with hidradenitis suppurativa: Results from two case - control studies. J Am Acad Dermatol 2008; 59: 596 - 601.
  • 6Gao M, Wang PG, Cui Y, et al. Inversa acne (hidradenitis suppurativa) : A case report and identification of the locus at chromosome 1p21.1 - 1@5.3. J Invest Dermatol 2006; 126(6) : 1302 - 1306.
  • 7McLean WHI, Pam W, Alan DI, et al. Mapping of two genetic loci for autosomal dominant hidradenitis suppurativa. Experimental Dermatology 2006 ; 15 (6) : 479.
  • 8Wang B, Yang W, Wen W, et al. γ- secretase gene mutations in familial acne inverse. Science 2010;330(6007):1055- 1056.
  • 9杨建强,高敏,周伏圣,王培光,徐生新,沈颂科,程晖,张书梅,杜文辉,张学军,杨森.毛囊闭锁三联征一家系致病基因精细定位研究[J].安徽医科大学学报,2009,44(3):295-298. 被引量：7
  • 10Al - Ali FM, Ratnamala U, Mehta TY, et al. Hidradenitis suppurativa (or acne inversa) with autosomal dominant inheritance is not linked to chromosome 1p21.1 - 1q25.3 region. Exp Dermatol 2010; 19(9) : 851 - 853.

二级参考文献13

  • 1徐薇,赵俊英,赵绘,顾菲,黄笑鸣.毛囊闭锁性三联征一例及家系分析[J].中华皮肤科杂志,2005,38(3):157-159. 被引量：11
  • 2王培光,林达,王红艳,李卉,高敏,周文明,刘盛秀,杨森,张学军.毛囊闭锁三联症一家系调查[J].临床皮肤科杂志,2006,35(1):42-43. 被引量：6
  • 3陈小英,郑捷.表皮分化复合物和皮肤病[J].国际皮肤性病学杂志,2006,32(3):185-187. 被引量：1
  • 4张学军.复杂疾病的遗传学研究策略[J].安徽医科大学学报,2007,42(3):237-240. 被引量：31
  • 5Meixner D,Schneider S,Krauso M,et al.Acne inversa[J].J Dtsch Dermatol Ges,2008,6(3):189-96.
  • 6Gao M,Wang P G,Cui Y,et al.Inversa acne (hidradenitis suppurativa):a case report and identification of the locus at chromosome 1p21.1～1q25.3[J].J Invest Dermatol,2006,126 (6):1302 -6.
  • 7Sellheyer K,Krahl D." Hidradenitis suppurativa" is acne inversa!An appeal to (finally) abandon a misnomer[J].Int J Dermatol,2005,44 (7):535-40.
  • 8Jansen T,Altmeyer P,Plewig G.Acne inversa (alias hidradenitis suppurativa)[J].J Eur Acad Dermatol Venereal,2001,15(6):532 -40.
  • 9Fitzsimmons J S,Fitzsimmons E M,Gilbert G.Familial hidradenitis suppurativa:evidence in favour of single gene transmission[J].J Med Genet,1984,21 (4):281 -5.
  • 10Van Der Werth J M,Williams H C,Raeburn J A.The clinical genetics of hidradenitis suppurativa revisited[J].Br J Dermatol,2000,142(5):947-53.

共引文献6

同被引文献24

  • 1冯西恩,岳建平,徐汉卿.阿维A联合仙方活命饮治疗头部脓肿性穿掘性毛囊周围炎2例[J].中国皮肤性病学杂志,2005,19(12):763-763. 被引量：5
  • 2Vemeuil A. Etudes sur les tumeurs de la peaui dequelques malasiesdes grandes sudoripares. Archives Generales de Medicine, 1854,4 :447 - 468.
  • 3Wang B, Yang W, Wen W, et al. Gamma - secretase gene muta-tions in familial acne inversa. Science,2010,330(6007) : 1065.
  • 4Pink AE, Simpson MA,Trembath KC,et al. PSENEN and NGSTNmutations in familial hidradenitis suppurativa (Acne Inversa) , J In-vest Dermatol,2011,131 (7) : 1568 - 1570.
  • 5Liu Y,Gao M,Zhang XJ, et al. Confirmation by exome sequencingof the pathogenic role of NCSTN mutations in acne inversa (hidrade-nitis suppurativa) . J Invest Dermatol,2011,131(7) : 1570 - 1572.
  • 6Li CR, Jiang MJ, Shen DB, et al. Two novel mutations of thenicastrin gene in Chinese patients with acne inversa. Br J Dermatol,2011,165(2):415-418.
  • 7Nomura Y,Nomura T, Sakai K, et al. A novel splice site mutationin NCSTN underlies a Japanese family with hidradenitis suppurativa.Br J Dermatol, 2013,168(1):206.
  • 8Pink AE,Simpson MA,Desai N, et al. Mutations in the J - secre-tase genes NCSTN,and PSENEN, and PSEN1 underlie rare forms ofhidradenitis suppurativa (acne inversa). J Invest Dermatol, 2012,132(10):2459 - 2461.
  • 9Zhang C,Wang L, Chen L, et al. Two novel mutations of the NC-STN gene in Chinese familial acne inverse. J Eur Acad DermatolVenereol,2012,3(in press).
  • 10Miskinyte S,Nassif A, Merabtene F, et al. Nicastrin mutations inFrench families with hidradenitis suppurativa. J Invest Dermatol,2012,132(6):1728- 1730.

引证文献2

二级引证文献3

中国麻风皮肤病杂志
2011年 第8期

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