银屑病家系易感基因定位的研究  

Study on susceptibility loci of familial psoriasis vulgaris

作　　者：蔡大幸[1] 孙青[1] 吴东颖[2] 张峰[2] 钟华[1] 吴琳[2] 

机构地区：[1]山东大学齐鲁医院皮肤科,济南250012 [2]中国科学院北京基因遗传所暨华大基因

出　　处：《中国麻风皮肤病杂志》2007年第10期845-847,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的：探讨银屑病易感基因与第4、6、17号染色体上7个微卫星标记的连锁关系,初步对汉族鲁系银屑病易感基因进行定位研究。方法：选择22个银屑病家系中75例患者和正常人51例。选择7个微卫星标记（STR）：D6S276、D6S1610、D4S403、D4S424、D4S415、D17S949、D17S784,利用ABI3730测序仪进行电泳测序,并用与之配套的GeneScan、GeneMapper软件进行基因分型。利用GENEHUNTER软件对STR的基因分型数据进行连锁分析。结果：D17S949、D17S784位点的最大两点LOD值,最大两点NPL值均大于1（P〈0.05）,提示存在连锁关系。结论：染色体17q23～17q25区域内存在寻常型银屑病易感基因。Objective： To search for the susceptibility genes of psoriasis： the linkage of seven microsatellite markers （STRs） on chromosome 4,6, 17 in Chinese Hans psoriasis in Shandong Province. Methods： Genomic DNA was extracted from blood of 75 patients and 51 unaffected family members in 22 pedigrees. Seven polymorphic microsatellite DNA markers （ D6S276, D6S1610, D4S403, D4S424, D4S415, D17S949, D17S784） were selected. The samples were sequenced and the STR was genotyped with ABI3730 sequencer. Linkage study on the genotyping data was conducted with GENEHUNTER. Results： The maximum two-point LOD score and the NPLmax on locus D17S949 and D17S784 were both beyond 1 （P 〈 0.05）. The results indicate imputative linkages of the genes to these regions. Conclusion： The susceptibility gene may be localized in 17q23 ～ 17q25 region in familial psoriasis vulgaris.

关 键 词：银屑病 易感基因 连锁分析 

分 类 号：R758.63[医药卫生—皮肤病学与性病学]