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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 study the Taq Ⅰ polymorphisms of α - fibrinogen gene and the expressions of β - fibrinogen gene -455G / A, -249C / T, -148C / T, +1689T / G, βBsmAⅠG / C, 448G / A, BclIG / A, Relationship between Hinf Ⅰ A / C Single Nucleotide Polymorphisms and Haplotypes and Ischemic Stroke. Methods The turbidimetric method was used to determine the plasma fibrinogen concentrations in 160 cases of Hainan ischemic stroke and 130 Hainan nationality controls. The genotypes were determined by PCR restriction fragment length polymorphism (PCR), and the number of nucleotides State linkage disequilibrium and haplotype, using the chi-square test analysis of the case group and control group allele frequency, genotype frequency and haplotype frequency differences. Results The genotype frequency and allele frequency of -455G / A, -148C / T and 448G / A polymorphisms were significantly different between the case group and the control group (P <0.01). The other 6 nuclei There was no significant difference in the genotype frequency and allele frequency between the cases and the control group (P> 0.05). A-455, T-148 and A448 carriers had ischemic stroke Relative risk than non-carriers were 2.46 times, 2.30 times and 2.08 times. The linkage disequilibrium analysis found no haplotype blocks in the analyzed area. The haplotypes constructed at the 9 loci had no significant difference between the case group and the control group. Of the haplotypes constructed at the 4 loci, some haplotypes were between the case group and the control group The difference was statistically significant. The frequency of haplotypes carrying G-455, C-148 and G448 loci in the control group was higher than those in the case group. Some cases carrying A-455, T-148 and A448 Haplotype frequency was higher in the locus than in the control group. Conclusions The results of multiple loci and haplotype analysis suggest that 455G / A, -148C / T and 448G / A of β-fiber white matter may be risk factors associated with ischemic stroke in Hainan Han population.