【摘要】 目的研究海南汉族、黎族人群体纤维蛋白原基因αTaqⅠ、βBclⅠG/A、βHinfⅠA/C、β448G/A、βBsmAⅠG/C、β+1689T/G、β-148C/T、β-249C/T、β-455G/A9个位点的等位基因频率、连锁不平衡关系及单体型。方法从末梢血提取316名海南汉族个体和182名海南黎族个体的DNA标本,用PCR-RFLP法及测序法分析多态性和确定基因型,用EH+程序分析核苷酸多态性的连锁不平衡关系及单体型,用χ2检验分析人群间的等位基因频率及单体型频率的差异。结果纤维蛋白原基因αTaqⅠ、βBclⅠG/A、βHinfⅠA/C、β448G/A、βBsmAⅠG/C、β+1689T/G、β-148C/T、β-249C/T、β-455G/A的稀有等位基因频率在汉族人群中分别为0·429、0·255、0·128、0·255、0·302、0·267、0·282、0·468、0·274,在黎族人群中分别为0·312、0·363、0·150、0·344、0·328、0·350、0·331、0·626、0·350。海南汉族人群和黎族人群αTaqⅠ、βBclⅠG/A、β448G/A、β+1689T/G、β-249C/T、β-455G/A5个位点的稀有等位基因频率分布存在统计学差异(P<0·01)。黎族人群9个位点两两之间的连锁不平衡的紧密程度比汉族人群高。部分单体型的分布在两个人群之间的分布存在统计学差异。结论海南汉族、黎族人群纤维蛋白原基因的某些多态性及单体型的频率存在差异。更多还原

【Abstract】 Objective To investigate the allelic frequencies, linkage disequilibrium and haplotypes of nine fibrinogen gene polymorphisms, α TaqⅠ, β BclⅠ, β HinfⅠA/C, β 448G/A, β BsmAⅠG/C, β +1689T/G, β-148C/T, β-249C/T, β-455G/A in Hainan Han and Li populations in Hainan Province. Methods Genomic DNA was extracted from peripheral blood cells from 316 unrelated Han individuals and 182 unrelated Li individuals in Hainan. The polymorphisms were characterized by PCR-RFLP and sequencing. Hardy-Weinberg equilibrium was examined and statistical differences of allelic frequencies and haplotype frequencies were obtained and tested by Chi square test. Pairwise linkage disequilibrium of nuleotides and haplotypes were estimated by the EH+ program. Results The rare allele frequencies of α TaqⅠ, β BclⅠ, β HinfⅠA/C, β 448G/A, β BsmAⅠG/C, β +1689T/G, β-148C/T, β-249C/T, β-455G/A were 0.429, 0.255, 0.128, 0.255, 0.302, 0.267, 0.282, 0.468, 0.274 respectively in Hainan Han population and 0.312, 0.363, 0.150, 0.344, 0.328, 0.350, 0.331, 0.626, 0.350 respectively in Hainan Li population. The rare allelic frequencies of β BclⅠ, β 448G/A, β +1689T/G, β-249C/T, β-455G/A were significantly different between the Han and Lipopulations (P<0.01). The linkage disequilibrium of the ninepolymorphisms was much higher in Li population than in Han population. Some haplotypes frequencies were significant different between the two populations. Conclusion These results suggest ethnic differences in the polymorphisms and haplotypes of fibrinogen gene between the Han and Li populations in Hainan.更多还原