【摘要】 目的:确定染色体1q是否存在中国汉族寻常型银屑病易感基因位点。方法:用覆盖染色体1q的12个微卫星标记,对36个寻常型银屑病家系共190个个体(包括92例患者与98例正常亲属)进行基因组扫描研究,并用LINKAGE、ETDT及GENEHUNTER软件进行统计处理。结果:①LINKAGE分析示D1S2891的LOD值为1.0750(θ=0.2),支持连锁;②GENEHUNTER示D1S249、D1S2772和D1S2891的NPL值均大于1.6,相应P<0.05;③ETDT示D1S249 170bp等位基因和D1S413 258bp等位基因分别优先传递给正常子代。结论:中国汉族人1q31-32区存在银屑病易感基因。更多还原

【Abstract】 Objective:To investigate the psoriasis susceptibility loci on chromosome 1q in Chinese Han population. Methods: The genome-scan was performed with 12 microsatellites spanning chromosome 1q in 36 Chinese Han families (190 family members) comprised of 92 psoriatic patients and 98 normal relatives. DNA was extracted from peripheral blood in these families. Evidence for linkage disequilibrium was assessed with extended transmission disequilibrium test (ETDT) program, LINKAGE and GENEHUNTER softwares. Results: (1) With linkage, D1S2891 was associated with psoriasis and its maxium LOD score was 1.075 (θ=0.2). (2) With GENEHUNTER, the markers D1S249, D1S2891 and D1S2772 were also associated with psoriasis, with a NPL value of >1.6 (P<0.05). (3) With ETDT, D1S249 170 bp allele and D1S413 258 bp allele were preferably past to next generation. Conclusion: 1q31-32 contains genes susceptible to psoriasis in Chinese Han population.更多还原