湖北地区汉族健康人群白细胞介素-1β基因5号外显子+3953C/T位点多态性的研究

目的 了解白细胞介素—1β基因(IL-1B)5号外显子 3953位点的单核苷酸多态性(SNP）在中国湖北地区汉族健康人群中的分布及其与不同种族比较的特点。方法 采用聚合酶链反应—限制性片段长度多态性(PCR—RFLP)的方法,对251名湖北地区汉族健康者IL-lB( 3953)位点的SNP进行了检测,计算其基因型和等位基因频率,并结合文献进行了不同种族间的分析比较。结果 湖北地区汉族健康人群CC基因型频率最高,CT基因型次之,没有发现TT基因型;CC和CT基因型频率分别为0．96和0．04。与德国、西班牙等欧洲人群相比,湖北地区汉族健康人群C等位基因频率明显偏高,21等位基因频率明显偏低(P＜0．005),而与亚洲日本人群相似(P＞0．05)。结论 湖北地区汉族健康人群IL—1B( 3953)位点碱基突变率极低,其SNP在不同种族间的分布存在明显的差异。

Study on polymorphism at position +3953C/T of the fifth exon of interleukin-1 beta in healthy population of the Han nationality of Hubei province,China

Objective To observe the single nucleotide polymorphism (SNP) at position +3953 of the fifth exon of interleukin 1 beta in the population of healthy Chinese Han nationalityof Hubei province,compare and analyze the distributions of SNP among different races.Methods Using PCR RFLP method, the polymorphism at position +3953 of exon 5 of IL 1 beta in 251 healthy individuals was detected,and the genotypes and allele frequencies were calculated and analyzed.Results The most frequent genotype was CC,and the the second was CT,but no TT genotype was found in the population of Han nationality of Hubei province.The frequency of CC and CT genotype were 0.96 and 0.04 respectively.Compared with the Dutch and Espanol populations,the frequency of allele C of IL 1beta(+3953) in the health population of Han nationality of Hubei province was markedly higher,but allele T of IL 1beta(+3953) was lower(P<0.005),which was similar with that in Japanese(P>0.05).Conclusion The mutation frequency at position IL 1beta (+3953) of are extremely low in the population of Han nationality of Hubei province,whose SNP is significantly different among different races.