湖北汉族人群白细胞介素18基因启动子区多态性研究

Studies of Polymorphisms on Interleukin-18 Gene Promoter Region in Chinese Hans of Hubei Area

目的 :研究白细胞介素 18(IL 18)基因启动子区 - 137G/C、- 6 0 7C/A位点多态性在湖北汉族健康人群中的分布。方法 :随机选择 187例湖北地区无血缘关系的汉族健康人 ,用序列特异性引物聚合酶链反应技术检测IL 18基因启动子区 - 137G/C、- 6 0 7C/A位点单核苷酸多态性 (SNP) ,并进行不同种族间比较。结果 :湖北地区汉族健康人群IL 18基因启动子区 - 137位点基因型以GG型 ( 6 7% )多见 ,其次为GC型 ( 30 % )和CC型 ( 3% ) ;其等位基因以G型 ( 82 % )最为常见。而 - 6 0 7位点基因型以CA型 ( 6 0 % )多见 ,其次为CC型 ( 2 1% )和AA型 ( 19% ) ;其等位基因以C型 ( 51% )多见。与瑞典、波兰、澳大利亚等人群相比 ,该位点多态性分布差异存在显著性 (P <0 .0 5) ,而 - 137G/C位点基因型分布与亚洲日本人群相接近 (P >0 .0 5)。结论 :湖北地区汉族人群IL 18基因启动子区 - 137G/C、- 6 0 7C/A位点存在多态性 ,其在不同种族间的分布可能存在显著性差异。

Objective:To study the polymorphisms of the promoter region of interleukin-18(IL-18) gene at position -137 and -607 in Chinese Hans of Hube i area.Method:Using polymerase chain reaction with sequence specific p rimers(PCR-SSP)method,the single nucleotide polymorphisms(SNP)of the promot er region of IL-18 gene at position -137 and -607 were detected randomly in 187 healthy Hans people.The genotype and allele frequencies were analyzed among di fferent races in according to reference.Results:In Han population of Hubei,the GG genotype(67%) at position -137 in the promoter of IL-18 gene was the most common,followed by the GC (30%)and CC genotype(3%);The frequency of allele G was higher(82%) th an allele C.The CA genotype(60%) at position-607 in the promoter of IL-18 ge ne was the most common,followed by the CC (21%)and AA genotype(19%);The fr equency of allele C was higher(51%) than allele A.Compared with Sweden,Polan d and Australia population,there was significant different in the distributions of the SNP(P<0.05).But compared with Japanese,there was similar in the distributions of the SNP at position -137 in the promoter of IL-18 gene(P> 0.05). Conclusion:There are the polymorphisms of the promoter re gion o f interleukin-18 gene at position -137 and -607 in the Chinese Hans of Hubei ar ea,whose distributions may be significance different in different races.