6号染色体上可能存在银屑病易感基因

中华皮肤科杂志 ›› 2002, Vol. 35 ›› Issue (2): 117-119.

6号染色体上可能存在银屑病易感基因

王红¹, 刘维达¹, 李辉², 赵敬军¹, 陈炜¹, 金力^2,3

1. 中国医学科学院、中国协和医科大学皮肤病研究所;
2. 复旦大学遗传所群体遗传学实验室,复旦大学遗传所群体遗传学实验室;
3. 美国德克萨斯大学休斯顿分校人类遗传学中心

收稿日期:2001-06-09 出版日期:2002-04-15 发布日期:2002-04-15
通讯作者: 刘维达，210042 南京，中国医学科学院、中国协和医科大学皮肤病研究所

Evidence for Psoriasis susceptibility Locus in China:Locus on Chromosome 6p21.3

WANG Hong¹, LIU Weida¹, LI Hui², ZHAO Jingjun¹, CHEN Wei¹, JIN Li^2,3

Institute of Dermatology, Chinese Academy of Medical Sciences &Peking Union Medical College, Nanjing 210042, China

Received:2001-06-09 Online:2002-04-15 Published:2002-04-15

摘要/Abstract

摘要： 目的研究中国人寻常型银屑病与6p21.3区域内的六个微卫星标记和4q上的两个微卫星标记是否连锁,以寻找银屑病易感基因位点。方法利用选取的微卫星位点作为标记,采用微卫星荧光标记-基因扫描及分型技术,选取205例经确诊并符合寻常型银屑病诊断标准的患者,对其中14个银屑病家系进行连锁分析。结果在研究的家系中未发现4q上的微卫星标记与银屑病易感基因之间的连锁,而在染色体6p21.3区域存在着与之有连锁关系的微卫星标记位点(在D6S273位点上两点分析最大LOD值为1.26)。结论本研究表明在中国人银屑病患者中,染色体6p21.3区域可能存在银屑病易感基因。

关键词: 银屑病, 染色体,人,6对, 连锁(遗传学)

Abstract: Objective To elucidate the genetic base of psoriasis for Chinese patients, the positional candidate loci (D6S273、D6S276、D6S422、D6S299、D6S291、D4S1535、D4S1652、D4S171)previously reported in the regions 6p21.3 and 4q were studied in some carefully examined psoriatic families in order to establish whether the eight reported microsatellites loci(STRs) underlay susceptibility to psoriasis in different populations. Methods Two hundred and five probands with psoriasis vulgaris were identified from outpatients attending the Institute of Dermatology, Chinese Academy of Medical Sciences. Genotypes were generated at 8 polymorphic loci on chromosome 6p21 and 4q in 14 pedigrees. The results were analyzed parametrically by linkage 5.0 software. Results There was evidence for linkage to D6S273 in 6p21.3 (the LOD score was 1.26). No evidence for linkage was obtained at other loci including three loci on chromosome 4q. Conclusions This study confirms the presence of a psoriasis susceptibility locus on chromosome 6p previously studied. It is shown that there may be psoriasis susceptibility locus D6S273 on chromosome 6p21.3 in the Chinese population.

Key words: Psoriasis, Chromosomes,human,pair 6, Linkage(Genetics)

王红, 刘维达, 李辉, 赵敬军, 陈炜, 金力. 6号染色体上可能存在银屑病易感基因[J]. 中华皮肤科杂志, 2002, 35(2): 117-119.

WANG Hong, LIU Weida, LI Hui, ZHAO Jingjun, CHEN Wei, JIN Li. Evidence for Psoriasis susceptibility Locus in China:Locus on Chromosome 6p21.3[J]. Chinese Journal of Dermatology, 2002, 35(2): 117-119.

参考文献

[1] 邵长庚.我国的银屑病的流行和防治现状.中华皮肤科杂志,1996, 29:75-76.
[2] Elder JT, Nair RP, Guo S-W, et al.The genetics of Psoriasis.Arch Dermatol, 1994, 130:216-224.
[3] Trembath RC,Clough RL,Rosbotham JL,et al.Indentification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis.Hum Mol Genet,1997,6:813-820.
[4] Nair RP, Henseler t,Jenisch S, et al.Evidence for two psoriasis susceptibility loci (HLA and 17q)and two novel candidate regions(16q and 20p)by genome-wide scan.Hum Mol Genet, 1997,6:1349-1356.
[5] Burden DA,Javed S,Bailey M, et al.Genetics of psoriasis:paternal inheritance and a locus on chromosome 6p.J Invest Dermatol, 1998,110(6):958-960.
[6] Tomfohrde J,Silverman A,Barnes R,et al.et al.Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.Science, 1994,264:20.
[7] Matthews D,Fry L,Powles A,et al.Evidence that a locus for familial psoriasis maps to chromosome 4q.Nat Genet, 1996,14:231-233.
[8] Capon F,Novelli G,Semprini S, et al.Searching for psoriasis susceptibiltuy genes in Italy:Genome scan and evidence for a new locus on chromosome 1.J Invest Dermatol, 1999,112:32-35.
[9] Enlund F,Samuelsson L,enerback C,et al.Psoriasis susceptibility locus in chromosome regions 3q21 identified in patients from southwest Sweden.Eur J Hum genet,1999,7(7):783-790.
[10] Barker JN:The pathophysiology of psoriasis.Lancet,1991,338:227-230.
[11] J萨姆布鲁 EF, 弗里奇T曼尼阿蒂斯著.分子克隆实验指南.金冬雁,黎孟枫,等译.北京:科学出版社,1993.463-469.
[12] Reed PW.Chromosome-specific microsatellite sets for fluorescence-based semi-automated genome mapping.Nature Genet, 1994,7:390-395.
[13] Dib C, Faure S, Fizames C, et al.A comprehensive genetic map of the human genome based on 5,264 microsatellites.Nature, 1996,380:152-154.
[14] Capon F, Semprini M, Dallapiccola B, et al.Evidence for interaction between psoriasis-susceptibility loci on chromosomes 6p21and 1q21.Am J Hum Genet, 1999,65:1798-1800.
[15] Balenderan N, Clough RL, Arguello JR, et al.Characterization of the major susceptibility region for psoriasis at chromosome 6p21.3.J Invest Dermatol, 1999,113:322-328.
[16] Matthews D,Fry L,Powles A,et al.Confirmation of genetic heterogeneity in familial psoriasis.J Med Genet,1995,32:546-548.
[17] Nair RP,Guo SW, Jenish S, et al.Scanning chromosome 17 for psoriasis suscesptibility:lack of evidence for a distal 17q locus.Hum Hered, 1995,45:219-230.