海南汉族、黎族人群纤维蛋白原基因9个核苷酸多态性及单体型的比较研究  

Comparison of the Nucleotide Polymorphisms and Haplotypes in Fibrinogen Gene between Hainan Han and Hainan Li Populations

作　　者：孙川[1,2,3] 梁亮[1,2] 肖锋[1,2] 刘国勋[4] 程爽[4] 蔡望伟[1,5] 

机构地区：[1]海南医学院生物化学教研室 [2]广东医学院附属医院血液研究室 [3]温州医学院第二附属医院血液内科,325027 [4]广东医学院附属医院血液研究室 [5]海南医学院分子生物学重点实验室

出　　处：《国际遗传学杂志》2006年第3期173-177,195,共6页International Journal of Genetics

基　　金：国家自然科学基金(No.30060037);教育部科学技术研究重点项目(No.03147);海南医学院重点学科项目(海医科研部[2005-46])

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。Objective To investigate the allelic frequencies, linkage disequilibrium and haplotypes of nine fibrinogen gene polymorphisms, a Taq I,β Bcl I, βHinf [ ME, β 448G/A, β BsmA I G/C, β ＋ 1689T/G,β- 148C/T,β - 249C/T,β - 455G/A in Hainan Han and Li populations in Hainan Province. Methods Genomie 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 frequeileies and haplotype frequencies were obtained and tested by Chi square test. Pairwise linkage disequilibritaal of nuleotides and haplotypes were estimated by the EH ＋ program. Results The rare allele frequencies of a Taq I, β Bcl I , β HinfI MC, β 448G/A,β BsmA I G/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 allelie frequencies of β Bcl I,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 nine polymorphisms was much higher in Ifi population than in Han population. Sbme 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.

关 键 词：纤维蛋白原 核苷酸多态性 连锁不平衡 单体型 

分 类 号：R394[医药卫生—医学遗传学]