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目的 探讨肿瘤坏死因子 (TNF) β的基因多态与华东地区汉族人系统性红斑狼疮(SLE)易感性的关系及其在SLE家系中的传递规律。方法 运用聚合酶链式反应 限制性片段长度多态 (PCR RFLP)对 99例SLE患者、116名正常人及 12个SLE家系的 4 8名成员进行了TNF β基因分型。结果 SLE患者的TNF β 2等位基因频率高于对照组 (6 2 6 % / 4 7 0 % ,OR =1 89,P =0 0 0 12 ) ,但可能样本量过小 ,在SLE家系研究中未发现TNF β基因多态存在关联的证据以及传递 /连锁不平衡的证据。结论 TNF β 2等位基因可能是SLE的易感等位基因
Objective To investigate the relationship between the gene polymorphism of tumor necrosis factor (TNF) β and susceptibility to systemic lupus erythematosus (SLE) in East Han Chinese and its transmission in SLE pedigrees. Methods The polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) was used to genotype TNFβ in 48 patients with SLE, 99 normal controls and 12 SLE families. Results The frequency of TNF β 2 allele in SLE patients was higher than that in control subjects (62.6% / 47.0%, OR = 1 89, P = 0.0012), but the sample size may be too small. No evidence of association of the TNF beta gene polymorphism with evidence of transmission / linkage disequilibrium. Conclusion The TNF β 2 allele may be a susceptible allele of SLE