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云南汉族SLE患者临床表型与HLA-Ⅱ类基因的相关性研究

Correlated Research of the Clinical Phenotypes and HLA Class Ⅱ Alleles in the Patients of Han Nationality with SLE
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摘要 目的探讨云南汉族系统性红斑狼疮(SLE)患者各种临床表型与HLA-DRB1、DQA1、DQB1等位基因及单体型的相关性.方法采用多聚酶链反应-序列特异性引物(PCR-SSP)技术对73例云南汉族SLE患者进行DRB1、DQA1、DQB13个位点的基因分型.结果云南汉族SLE患者中有蝶形红斑皮损者DR15(DRB1*1501-*1502)等位基因频率增加(80.0%vs37.5%,χ2=6.658,P=0.010,OR=6.667);DR15-DQB1*0501单体型频率增加(同前),排除DQB1的影响后,仍与DR15相关.结论云南汉族SLE蝶形红斑皮疹的出现与DR15(DRB1*1501-*1502)等位基因及DR15-DQB1*0501单体型相关.其它临床亚型如盘状红斑、光敏感、口腔溃疡、关节炎、浆膜炎、肾脏损害、神经系统损害、血液系统损害、血管炎等未见与特定等位基因及单体型相关. Objective To investigate the correlation of HLA-DRB1, DQA1, and DQB1 alleles and haplotypes with the clinical subsets of the patients of Han nationality with systemic lupus erythematosus (SLE) in Yunnan province. Methods DNA samples from 73 patients with SLE were genotyped on the DRB1, DQA1 and DQB1 loci by polymerase chain reaction and sequence-specific primers (PCR-SSP). The frequencies of genotypes and haplotypes were compared between clinical subset groups of patients with the disease. Results DR15 allele and DR15-DQB1^*0501 haplotype frequencies were significantly high in SLE patients who had skin involvement such as butterfly rash (80.0% vs. 37.5%, X^2 = 6.658, P = 0.010, OR = 6.667). Conclusion SLE patients with skin involvement (butterfly rash) correlates with DR15 (P 〈 0.05) allele and DR15-DQB1^*0501 haplotype (P 〈 0.05). But there was no s ignificant change in allele and haplotype frequencies at three HLA-II regions among patient groups of discoid LE, photosensitivity, oral mucosal ulceration, arthritis, serositis, lupus nephritis, lupus encephalopathy, hematological disorder, vasculitis and anti-Sm and so on.
出处 《昆明医学院学报》 2008年第1期7-11,共5页 Journal of Kunming Medical College
基金 中华皮肤科学会研究基金资助项目(200213)
关键词 系统性红斑狼疮 临床表型 HLA-DRBL DQAl DQBl等位基因 单体型 聚合酶链反应-序列特异性引物 Systemic lupus erythematosus Clinical subsets HLA-DRB1, DQA1, DQB1 Alleles Haplotype Polymerase-chain-reaction(PCR)-sequence-specific-primers
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