白细胞介素-6基因启动子-174G/C单核苷酸多态性的研究

目的　研究广西汉族人群白细胞介素 -6(IL -6)基因启动子 -174位点单核苷酸多态性分布特点 ,比较其在不同种族间分布的差异。方法　应用聚合酶链反应 -限制性片段长度多态性 (PCR -RFLP)的分析方法 ,检测了 198例健康者IL -6基因启动子 -174位点单核苷酸的多态性。结果　IL -6基因各基因型频率GG型为 98.48% ,GC型为 1.5 2 % ;G、C各等位基因频率分别为 99.2 4% ,0 .76% ,这种基因多态性分布在男女之间差异均无显著性 (P >0 .0 5 )。但与其它种族比较 ,发现不同种族间IL -6基因型分布及等位基因频率差异均有高度显著性 (P <0 .0 1)。结论　IL -6基因启动子 -174G/C单核苷酸多态性分布存在着较大的种族差异。这种差异可能是导致一些疾病在不同种族间的发病率和临床表现存在显著不同的因素之一。

The study of the single nucleotide polymorphism at-17 4G/C in interleukin-6 gene promoter

Objective To study the single n ucleotide polymorphism at-174 G/C in interleukin-6 (IL-6) gene promoter in Han p opulation of Guangxi and the comparison of different distribution among differen t races. Methods A polymerase chain reaction-re striction fragment length polymorphism was used to detect the frequency of IL-6 genotype and alleles in 198 normal Chinese individuals. Results The IL-6 gene frequency of GG was 98.48%, GC was 1.52%; and th e allele gene frequency of G and C was 99.24% and 0.76%, respectively, there was no statistically significant difference in these gene distributions among males and females (P>0.05). But the comparison to other ethnics showed there wer e statistically significant differences in IL-6 genotype frequency distribution and all allele gene frequency (P<0.01). Conclusion The frequency of interleukin-6 gene-174 G/C polymorphism varied signif icantly among different races. The variation of IL-6 gene polymorphism among dif ferent ethnic group might account for the varied clinical manifestations of some IL-6 related diseases.