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目的研究α纤维蛋白原基因TaqI多态性和β纤维蛋白原基因-455G/A-、249C/T、-148C/T、+1689T/G、448G/A、BsmAI、BclIG/A、HinfIA/C单核苷酸多态性及其单体型与冠心病的关系。方法采用聚合酶链反应限制片长多态性法确定基因型,采用比浊法测定血浆纤维蛋白原水平,采用EH+程序分析核苷酸多态性的单体型,采用卡方检验分析病例组和对照组的等位基因频率、基因型频率及单体型频率的差异。结果β纤维蛋白原基因-455A、-148T和448A的等位基因频率在冠心病组分别为0.343、0.351和0.326,在对照组分别为0.254、0.254和0.242,冠心病组β纤维蛋白原基因-455A、-148T和448A的等位基因频率明显高于对照组(P<0.05),β纤维蛋白原基因-455A、-148T和448A携带者患冠心病的相对危险度比非携带者分别大1.53倍、1.59倍和1.51倍;其他位点的等位基因频率在两组间无统计学差异。β纤维蛋白原基因-455G、-249C、-148C、+1689T、448G、BclIG、HinfIA和a纤维蛋白基因TaqI T2位点构成的单体型H16在病例组中的频率比对照组低(P<0.05)。以启动子区3个位点构建的单体型中,由-455G、-249C和-148C构成的单体型h1在病例组中的频率低于对照组(P<0.01),由-455A、-249C、-148C构成的单体型h5和由-455A、-249C、-148T构成的单体型h6在病例组中的频率高于对照组(P<0.05和P<0.01)。结论β纤维蛋白原基因-455G/A、-148C/T和448G/A单核苷酸多态性与冠心病关联,β纤维蛋白原基因-455A、-148T和448A可能是与冠心病相关的遗传危险因素。
Objective To investigate the TaqI polymorphism of α-fibrinogen gene and the expression of β-fibrinogen gene -455G / A-, 249C / T, -148C / T, +1689T / G, 448G / A, BsmAI, BclIG / A, HinfIA / C Single Nucleotide Polymorphism and Its Relationship with Monomer and Coronary Heart Disease. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine the genotype. The plasma fibrinogen level was measured by turbidimetry. The haplotypes of nucleotide polymorphisms were analyzed by EH + program. And control group allele frequency, genotype frequency and haplotype frequency difference. Results The allele frequencies of β-fibrinogen gene -455A, -148T and 448A were 0.343,0.351 and 0.326 in coronary heart disease group, 0.254,0.254 and 0.242 respectively in control group, β-fibrinogen gene- The allele frequencies of 455A, -148T and 448A were significantly higher than those of the control group (P <0.05). The relative risk of coronary heart disease was higher in carriers of -455A, -148T and 448A than in non-carriers Fold, 1.59-fold and 1.51-fold, respectively. There was no significant difference in allele frequencies between the two groups at other loci. The frequency of haplotype H16 in the β fibrinogen gene -455G, -249C, -148C, +1689T, 448G, BclIG, HinfIA and a-fibronectin TaqI T2 loci was lower in the case group than in the control group (P < 0.05). Among the haplotypes constructed at three sites in the promoter region, haplotype h1 consisting of -455G, -249C and -148C was lower in the case group than in the control group (P <0.01) -249C, -148C haplotype h5 and -455A, -249C, -148T monomer haplotype h6 in the case group frequency higher than the control group (P <0.05 and P <0.01). Conclusion The single nucleotide polymorphisms of β-fibrinogen gene -455G / A, -148C / T and 448G / A are associated with coronary heart disease. The β-fibrinogen gene -455A, -148T and 448A may be associated with coronary heart disease Genetic risk factors.