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目的 :探讨中国江苏地区汉族人群TNFβ基因多态性在SLE病人中分布特点 ,并与不同人种进行比较研究。 方法 :收集江苏地区 16 8名无血缘关系健康个体及 6 6例SLE病人的静脉血提取DNA ,应用聚合酶链反应限制性片段长度多态性(PCR RFLP) ,分析TNFβ基因的多态性。 结果 :中国汉族SLE病人与白种SLE病人TNFβ基因频率差异无统计学意义 ;中国汉族健康个体TNFβ 1等位基因频率明显高于白种健康个体 ;SLE病人TNFβ 2基因频率较正常人明显升高 (SLE病人 6 7 4% ,正常人 5 5 1% ,P <0 0 5 ,R =1 6 8) ;中国汉族SLE病人与白种SLE病人TNFβ基因频率差异无统计学意义。 结论 :TNFβ等位基因频率在正常人分布具有种族差异 ,但在SLE病人分布无种族差异。
Objective: To investigate the distribution of TNFβ gene polymorphism in Chinese Han population of Jiangsu Province in SLE patients and to compare with different ethnic groups. Methods: Venous blood DNA was extracted from 16 healthy unrelated individuals and 66 SLE patients in Jiangsu Province. The polymorphism of TNFβ gene was analyzed by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Results: There was no significant difference in TNFβ gene frequencies between Chinese SLE patients and white SLE patients. The frequency of TNFβ 1 allele in Chinese Han healthy subjects was significantly higher than that in white healthy subjects. The frequency of TNFβ 2 gene in SLE patients was significantly higher than that in normal subjects (74.4% of SLE patients, 51.5% of normal persons, P <0.05, R = 18.8). There was no significant difference in TNFβ gene frequencies between SLE patients and white SLE patients in Chinese Han population. CONCLUSIONS: The TNFβ allele frequency is heterogeneous in normal individuals but not in SLE patients.