广西百色壮族人群白介素-1受体拮抗剂基因第2号外显子+8006T/C位点多态性

目的探讨广西百色地区壮族人群白细胞介素-1受体拮抗剂(IL-1Ra)基因第2号外显子T+8006 C位点多态性分布。方法采用聚合酶链反应和限制片段长度多态性(PCR-RFLP)方法检测了165例百色地区壮族健康人群IL-1Ra(+8006)位点多态性,并结合文献进行了不同种族间的分析比较。结果百色地区壮族健康人群基因型以TT型最为常见,其次为TC型,CC型较为少见,分布频率依次为0.863、0.148、0.006;其等位基因以T型最为常见,其次为C型。与美国、德国、日本等国家人群相比,该位点多态性均存在显著性差异(P<0.01),与国内湖北地区汉族人群相比无显著性差异(P>0.05)。结论IL-1Ra基因第2号外显子+8006位点存在T/C多态性,其在不同种族间的分布可能存在着明显的差异。

Gene Polymorphism at the Position + 8006 T/C in Exon 2 of IL-1Ra Gene in Chinese Zhuang Population of Bose

Objective To study the distribution of the second exon region 8006T/C polymorphism of interleukin-1Ra gene in the chinese Zhuang population of Bose in Guangxi province.Methods The second exon region 8006T/C polymorphism of interleukin-1Ra gene was detected by ploymerase chain reaction-restriction fragment length polymorphism technique in healthy Zhuangs(n=165).Results The frequencies of TT,TC and CC genotypes were found to be 0.863,0.148 and 0.006 in Zhuangs .There was no significant difference in the frequency distribution of interleukin-1Ra genotype between Bose Zhuangs and Hubei Hans(P>0.05),but the polymorphism of IL-1Ra( 8006) in Zhuangs was significantly different compared with American,Germany and Japanese populations(P< 0.01).Conclusion There is a single nucleotide polymorphism(SNP) in the exon 2 of IL-1Ra at position 8006 in Chinese Zhuang population of Bose,whose distributions are probably significantly different in different ethic populations.