摘要
目的研究α纤维蛋白原基因的TaqⅠ多态性和β纤维蛋白原基因-455G/A、-249C/T、-148C/T、+1689T/G、βBsmAⅠG/C、448G/A、BclⅠG/A、HinfⅠA/C单核苷酸多态性及其单倍型与缺血性脑卒中的关系。方法用比浊法测定160例海南籍缺血性脑卒中和130名海南籍对照个体的血浆纤维蛋白原浓度,用PCR限制性片段长度多态法确定基因型,用EH+程序分析核苷酸多态性的连锁不平衡关系及单倍型,用卡方检验分析病例组和对照组的等位基因频率、基因型频率及单倍型频率的差异。结果-455G/A、-148C/T、448G/A多态性的基因型频率、等位基因频率在病例组和对照组之间的差异有统计学意义(P<0.01),其余6个核苷酸多态性的基因型频率、等位基因频率在病例和对照组间的差异无统计学意义(P>0.05),A-455、T-148、A448携带者患缺血性脑卒中的相对危险度比非携带者分别大2.46倍、2.30倍和2.08倍。连锁不平衡分析未发现所分析的区域内存在单倍型板块。9个位点构建的单倍型在病例组和对照组之间的差异无统计学意义,以4个位点构建的单倍型中,某些单倍型在病例组和对照组之间的差异有统计学意义,对照组中某些携带G-455、C-148、G448位点的单倍型的频率高于病例组,而病例组中某些携带A-455、T-148、A448位点的单倍型的频率高于对照组。结论多个位点和单倍型分析的结果提示β纤维白原455G/A、-148C/T、448G/A可能是海南汉族人群中与缺血性脑卒中关联的危险因素。
Objective To analyze the association of that the polymorphisms and haplotypes of Taq I site in a fibrinogen gene and the single nucleotide sites -455 G/A, - 249 C/T, - 148 C/T, ＋ 1689T/G, BsmA Ⅰ G/C,448 G/ A, Bcl Ⅰ G/A,Hinf Ⅰ A/C in beta-fibrinogen gene are linked up with the ischemic stroke（IS）. Methods Turbidmetric assay was used to measure the plasma fibrinogen level of one hundred and sixty cases with ischemic stroke and one hundred and thirty healthy individuals from Hainanese Hart population. The polymorphisms and genotypes were characterized by PCR-RFI.P. Hardy-Weinberg equilibrium and statistical differences of allelic, genotype and haplotype frequencies were obtained by Chi square test. Pairwise linkage disequilibrium was calculated and haplotypes of nine or four polymorphisms were estimated by the EH ＋ program. Results There were highly significant differences in genotype fequencies and allelic frequencies of the polymorphisms -455 G/A, - 148 C/T,448 G/A, which happened between the IS group and control subjects （ P 〈 0.01 ）. However, the significant differences of the allelic frequencies in the other six polymorphisms were not found between the IS group and the control （ P 〉 0.05）. The odds ratio（OR） with the rare alldes of A^-455,T^-148 and A^448 is 2.46, 2.30 and 2.08 （95% confidence interval 1.153%-3.924%, 1.429%-3.694% and 1.298%-3.329% ） respectively. No definite haplotype block was found by linkage disequilibrium analysis in the control group and the IS group. Association of haplotypes constructed from the nine polymorphisms with IS was not found..Among the haplotypes constructed from four polymorphisms including -455 G/A, - 148 C/T,448 G/A alleles, haplotype differences were found between the control group and the IS group. Haplotypes with G^-455, C^-148, G^448 alleles appeared more frequently in control group（ P≤0.01 ）, whereas haplotypes with A^-455、T^-148、A^448 occurred more frequently in the IS group（ P 〈 0.01 ）. Conclusion The results of mult
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第3期316-319,共4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)
海南医学院重点学科项目(海医科研部[200546]~~
