成纤维细胞生长因子2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:研究成纤维细胞生长因子2 (FGF2)基因5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Multiplex SNaPshot SNP分型技术对百色地区624例壮族个体的FGF2染色体基因组上5个位点(rs308379、rs12644427、rs3789138、rs308442和rs3747676)进行基因分型,结合HapMap计划4个人群(HapMap-CEU、HapMap-YRI、HapMap-JPT和HapMap-HCB)的SNPs分型数据,分析这5个人群的遗传结构.结果:壮族人群FGF2的基因型频率分布为:rs308378(AA 19.6％、AT 47.0％和TT 33.4％)、rs12644427(AA26.4％、AG 48.4％和GG 25.2％)、rs3789138(AA 29.6％、AG 49.2％和GG 21.2％)、rs308442(AA 6.6％、AT 36.0％和TT57.4％)和rs3747676(CC22.6％、CT48.1％和TT29.3％),其中rs308379A/T多态性的分布频率在壮族男性与女性之间差异具有统计学意义.FGF2基因SNPs在壮族人群的分布频率与HapMap-CEU、Hap-Map-JPT和HapMap-HCB的相比差异具有统计学意义.结论:广西百色地区壮族人群中存在FGF2基因多态性,且与HapMap-CEU、HapMap-YRI、HapMap-JPT和HapMap- HCB人群之间有差异的遗传成分存在.这种差异对人类学研究可能起重要的作用.%Objective: To study the frequencies of allele and genotype distribution of single nucleotide polymorphisms of fi-broblast growth factor 2 (FGF2) gene in Baise Guangxi Zhuang populations, and to analyze the distributions of FGF2 polymorphism among different races. Methods: The five loci (rs308379, rsl2644427, rs3789138, rs308442 and rs3747676) polymorphisms of FGF2 gene were examined by the single base extension methods in 624 Zhuang individuals. Moreover, the genetic structure was analyzed for Zhuang population along with the four populations (HapMap-CEU, HapMap-YRI, Hap-Map-JPT and HapMap-HCB) from HapMap data. Results: In 624 Zhuang individuals, the frequencies of genotype distribution of FGF2 gene were rs308379(AA 19. 6%, AT 47. 0% and TT 33. 4%), rsl2644427(AA 26. 4%, AG 48. 4% and GG 25. 2%), rs3789138(AA 29. 65%, AG 49. 2% and GG 21. 2%), rs308442(AA 6. 6%, AT 36. 0% and TT 57. 4%) and rs3747676(CC 22. 6%, CT 48.1% and TT 29. 3%), and the frequencies of genotype distribution in the locus rs308379 were significant different between male and female of Zhuang population (P< 0. 05). The frequencies of polymorphism distribution of FGF2 gene in Zhuang population were significantly different from that of HapMap-CEU, HapMap-YRI, HapMap-JPT or HapMap-HCB populations respectively (P< 0. 01). Conclusion: The results suggest that there are FGF2 gene polymorphisms in Guangxi Zhuang population, and the frequencies of polymorphism distribution of FGF2 gene are significantly different compared with HapMap-YRI, HapMap-CEU or HapMap-JPT population. The differences might play an important role for anthropological research.