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目的调查海南汉族健康人群αTaqⅠ和βBclⅠ、HinfⅠA/C、448G/A、βBsmAⅠG/C、+1689T/G、-148C/T、-249C/T、-455G/A多态性的等位基因频率及其与血浆纤维蛋白原(fibrinogen,Fg)水平的关系。方法用比浊法测定238名健康个体的血浆Fg浓度,用PCR限制性片段长度多态性方法及测序法分析多态性基因型,并用协方差分析比较9个位点的基因型与血浆Fg水平的关系。结果海南汉族人群αTaqⅠ、βBclⅠ、HinfⅠA/C、C448、βBsmAⅠG/C、+1689T/G、-148C/T、-249C/T、-455G/A稀有位点的等位基因频率分别为0.445、0.239、0.134、0.235、0.273、0.241、0.265、0.441、0.254,9个位点之间存在连锁不平衡;在总人群中,-455GA和AA基因型、-148CT和TT基因型、αTaqⅠT1T1基因型组的血浆Fg水平比野生型组高(P值均<0.01);在男性人群中,-455GA和AA基因型、-148CT和TT基因型、αTaqⅠT1T1、αTaqⅠT1T2基因型组的血浆Fg水平比野生型组高(P值均<0.01)。在女性人群中,携带稀有位点A-455、T-148、αTaqⅠT1的基因型组与野生型组之间的血浆Fg水平差异无统计学意义。结论在9个多态性位点之间存在连锁不平衡;A-455、T-148、αTaqⅠT1位点与血浆Fg水平增高关联,βFg455G/A、-148C/T及αTaqⅠ多态性与男性血浆Fg水平关联。
Objective To investigate the allele frequencies of αTaqⅠ, βBclⅠ, HinfⅠA / C, 448G / A, βBsmAⅠG / C, +1689T / G, -148C / T, -249C / T and -455G / A polymorphisms in healthy Han population in Hainan Its relationship with plasma fibrinogen (Fg) levels. Methods Turbidimetric method was used to determine plasma Fg concentrations in 238 healthy individuals. PCR-based restriction fragment length polymorphism (PCR-RFLP) and sequencing were used to analyze the polymorphism of genotypes. Covariance analysis was used to compare the genotypes of Fg Horizontal relationship. Results The frequencies of the alleles of αTaqⅠ, βBclⅠ, HinfⅠA / C, C448, βBsmAⅠG / C, +1689T / G, -148C / T, -249C / T and -455G / A in Han nationality in Hainan were 0.445,0.239 , 0.134,0.235,0.273,0.241,0.265,0.441,0.254 9 loci there is a linkage disequilibrium; in the general population, -455GA and AA genotype, -148CT and TT genotypes, αTaqIT1T1 genotype group Plasma Fg levels were higher in the male than in the wild-type group (P <0.01). In the male population, plasma Fg levels of -455GA and AA genotypes, -148CT and TT genotypes, αTaqⅠT1T1 and αTaqIT1T2 genotype groups were higher than those of the wild-type group (P <0.01). In the female population, there was no significant difference in plasma Fg levels between the genotype group and the wild type group carrying the rare sites A-455, T-148 and αTaqⅠT1. Conclusion There are linkage disequilibrium among the 9 polymorphic loci. A-455, T-148, αTaqⅠT1 sites are associated with increased plasma Fg levels. ΒFg455G / A, -148C / T and αTaq Ⅰ polymorphisms are associated with plasma levels of Fg level associated.