湖北地区汉族健康人群白细胞介素-1α基因启动子-889C/T位点多态性的研究

目的 :了解湖北地区汉族健康人群白细胞介素 1α基因 (IL 1A )启动子 -889位点的单核苷酸多态性 (SNP) ,比较其在不同种族间的分布特点。方法 :采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)分析的方法 ,检测 184名健康者IL 1A启动子 -889位点的SNP ,分析其基因型和等位基因频率。结果 :CC、CT、TT三种基因型 ,以C等位基因发生频率最高 ( 92 .4% ) ,T等位基因次之 ( 7.6% ) ;与挪威人群比较 ,其基因型和等位基因频率均存在极显著性差异 (P <0 .0 0 1) ,而与日本人群相比也有显著差异 (P <0 .0 5)。结论 :IL 1A启动子 -889位点存在SNP ,其在不同种族间的分布存在明显的差异 ,这种差异有可能是导致一些疾病在不同种族间的发病率和临床表现显著不同的因素之一

Study of The Polymorphism at The Position -889C/T in The Promoter of Interleukin-1 Alpha

To observe the single nucleotide polymorphism (SNP) i n the promoter of interleukin 1 alpha at position -889 in the healthy Chinese H an Population of Hubei,and to compare and analyze the distributions of single nu cleotide polymorphism among different races.Method: Using PCR RFLP(NcoⅠ) method,we detected the IL 1A(-88 9) polymorphism in 184 healthy people,then calculated and analyzed the genotype and allele frequencies.Results: We found three genotypes,CC,CT and TT.The frequency of allele C (92.4%)is the highest,then follows the allele T(7.6%).For the genot ype and allele frequencies,significant difference between Norwegian and Chinese was observed ( P<0.001),but weak difference between Japanese and Chinese ( P <0.05).Conclusion: There is a SNP in the promoter of IL 1A(-889),whose distribution is significant different among different races.The difference will probably affect the incidence and symptom of some diseases.