海南汉族人群九个纤维蛋白原基因多态性及其与血浆纤维蛋白原水平的关系  

Nine polymorphisms of fibrinogen gene and their association with plasma fibrinogen levels in Hainan Han population

作　　者：梁亮[1] 孙川[1] 肖锋[1] 汤小兰[2] 陈晓丹[3] 周代锋[1] 王小英[1] 王政[1] 刘国勋[4] 程爽[4] 凌光鑫[4] 包承鑫[5] 蔡望伟[1] 

机构地区：[1]海南医学院生化教研室,海口571101 [2]海南医学院流行病学教研室,571101 [3]海南医学院附属医院检验科,海口571101 [4]广东医学院附属医院血液研究室 [5]中国医学科学院血液研究所

出　　处：《中华医学遗传学杂志》2005年第4期457-461,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(30060037);教育部科学技术研究重点项目(03147)~~

摘　　要：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 allelic frequencies of polymorphisms of αTaqⅠand βBclⅠ , Hinf Ⅰ A/C,448 G/A,βBsmA Ⅰ G/C, ＋1689T/G, -148C/T, -249C/T, -455G/A in Hainan Han population and their association with plasma fibrinogen level. Methods Turbidmetric assay was used to measure plasma fibrinogen level of two hundred and thirty eight healthy individuals. The genotypes were characterized by PCR-RFLP and sequence analysis. The relationships between the genotypes and plasma fibrinogen levels were analyzed by t-test and ANOVA. Results The frequencies of the rare alleles of αTaqⅠ and βBclⅠ, Hinf Ⅰ A/C, 448 G/A, βBsmAⅠ G/C,＋1689T/G,-148C/T,-249C/T,-455G/A polymorphisms were 0. 445,0. 239, 0. 134,0. 235,0. 273,0.241,0. 265,0. 441,0. 254 respectively. In the general population, the plasma fibrinogen level is significantly higher in the groups of genotypes - 455GA and AA,-148CT and TT, αTaqⅠ T1T1 than in the group of wild types（ P = 0.004, 0.015 and 0.043 respectively）. In the men, plasma fibrinogen level is significantly higher in the groups of genotypes - 455GA and AA, - 148CT and TT, αTaqⅠ T1T1, αTaq Ⅰ T1T2 than in the group of wild types（ P = 0.001,0.023,0.003 and 0.032 respectively）. In the women, no significant genotype association with plasma fibrinogen level was detected. Conchusion There was linkage disequilibrium between the fibrinogen gene loci. The β-455G/A β448G/A,α-Fg Taq Ⅰ polymorphisms were associated with the difference in plasma fibrinogen in men. A^-455, T^-148 and α Taq Ⅰ T1 alleles were associated with higher fibrinogen levels.

关 键 词：海南 汉族 纤维蛋白原 基因多态性 血浆 基因型 等位基因 

分 类 号：R394[医药卫生—医学遗传学]