脂联素基因单核苷酸多态性在广西百色地区壮族人群中的分布

摘要

目的:研究脂联素基因4个单核苷酸多态性( SNPs)各等位基因及基因型在广西百色地区壮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:采用单碱基延伸的单核苷酸多态性(SNPs)分型技术对广西百色地区624例壮族个体的脂联素染色体基因组上4个位点(rs1063539 C/G、rs12495941 G/T、rs266729 C/G和rs3774261 A/G)进行基因分型,结合Hapmap计划第2期公布的4个人群的SNPs分型数据,分析这5个人群的遗传结构.结果:在广西百色地区壮族人群中存在脂联素这4种位点的基因多态性,脂联素基因rs1063539 C/G、rs12495941 G/T和rs3774261 A/G多态性的分布频率与欧洲、非洲、日本东京人群比较均存在差异；而与北京汉族人比较差异无统计学意义.结论:在广西百色地区壮族人群中存在脂联素基因多态性.与北京汉族人比较无差异,但与祖先来自欧洲、非洲和日本东京人有差异的遗传成分存在.这种差异对于人类学的研究可能起重要的作用.%Objective: To study the frequencies of allele and genotype distribution polymorphisms of single nucleotide of adiponectin gene in Baise Guangxi Zhuang populations, and to analyze the distributions of adiponectin polymorphism among different races. Methods: The four loci (rsl063539 C/G, rsl2495941 G/T, rs266729 C/G and rs3774261 A/G) polymorphisms of adiponectin gene were examined by the single base extension (SBE) methods in 624 Zhuang individuals. Moreover, the genetic structure was analyzed for Zhuang population along with the four populations from Hapmap Ⅱ data. Results: There are adiponectin gene polymorphisms in Guangxi Zhuang populations. The frequencies of allele and genotype distribution of adiponectin gene rsl063539 C/G, rsl2495941 G/T and rs3774261 A/G polymorphisms were significantly different compared with HapMap-CEU, HapMap-YRI and HapMap-JPT populations (P < 0. 05). The adiponectin gene polymorphisms was not significantly different compared with HapMap-HCB (P>0. 05). Conclusion: There are adiponectin gene polymorphisms in Guangxi Zhuang population, and the frequencies of polymorphism distribution of adiponectin gene are not significantly different compared with HapMap-HCB, whose distributions are significantly different in genetic structure compared with HapMap-CEU, HapMap-YRI and HapMap-JPT populations. It may play an important role for anthropological research.