广西壮族和汉族人群白细胞介素-18基因单核苷酸多态性及单倍型分析

目的了解白细胞介素-18(IL-18)基因启动子-137G/C,-607C/A多态性及单倍型在广西地区壮族及汉族人群中的分布频率,比较其在不同种族间分布的差异。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术和DNA测序法检测160名壮族人和150名汉族人的IL-18基因-137G/C,607C/A多态性,比较两组IL-18基因型、等位基因及单倍型的分布频率;并结合文献进行不同种族间的比较分析。结果在广西壮族及汉族人群中IL-18基因单核苷酸多态性及单倍型的分布频率差异均无显著性(P>0·05),但与欧洲人群比较,IL-18基因单核苷酸多态性及单倍型的分布频率均差异有显著性(P<0·05)。结论在广西地区壮族及汉族人群中存在IL-18基因多态性,其基因单核苷酸多态性及单倍型的分布频率差异均无显著性,但与其他种族人群比较差异有显著性,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。

Analysis of interlenkin - 18 gene single nucleotide polymorphism and haplotype in Zhuang and Han populations in Guangxi Province

Objective To study the frequencies of allele and genotype distribution of interleukin-18 (IL-18) gene promoter-137 G/C,-607 C/A polymorphisms and its haplotypes in Zhuang and Han populations in Guangxi Province, and to analyze the distributions of IL-18 polymorphism and its haplotypes among different races. Methods The IL-18 gene-137 G/C and-607 C/A polymorphisms was examined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods in 160 Zhuang and 150 Han populations. The frequencies of allele, genotype and haplotype of IL-18 gene were compared between Zhuangs and Hans and with other ethnics group.Results The frequencies of allele, genotype and haplotype distribution of IL-18 gene were not significantly different between the Zhuangs and the Hans (P>0.05). Compared with European populations, the IL-18 polymorphisms and its haplotypes were significantly different (P<0.05). Conclusion There are IL-18 gene polymorphisms in Zhuang and Han populations in Guangxi Province. The frequencies of single nucleotide polymorphism and haplotype distribution of IL-18 gene were not significantly different between the Zhuang and Han populations, but their distributions are significantly different from others ethnic populations. The variation of IL-18 gene polymorphism among different ethnic groups might account for the diverse clinical spectrum of some IL-18 related diseases.