脑梗死患者组织因子途径抑制物基因-287T/C多态性

目的分析脑梗死患者组织因子途径抑制物(TFPI)基因-287T/C多态性,探讨TFPI基因多态性与脑梗死形成的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法检测114例脑梗死患者、116名健康人作为对照的TFPI-287T/C基因型频率和等位基因频率。结果脑梗死组和对照组TFPI基因-287T/C多态性基因型频数分布符合Hardy-Weinberg平衡。脑梗死组TFPI-287T/C具有杂合突变型(TC)基因型个体的频数(43.9%)高于健康对照组(31.0%),差异有统计学意义(χ2=4.040,P<0.05);C等位基因频率分布也高于对照组(χ2=5.831,P<0.05);正常纯合子(TT)基因型个体的频数(45.6%)低于健康对照组(62.1%),差异有统计学意义(χ2=6.265,P<0.05)。结论 TFPI基因-287T/C多态性与我国人群脑梗死易感性有关,杂合突变基因型可能是脑梗死的重要危险因素。

The polymorphism of tissue factor pathway inhibitor-287T/C in patients with cerebral infarction

Objective To investigate the polymorphism of tissue factor pathway inhibitor（TFPI）-287T/C in patients with cerebral infarction（CI）,and to explore the correlation between TFPI gene polymorphism and CI.Methods One hundred and fourteen CI patients were detected for their genotype frequency and allele frequency of TFPI-287T/C using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）,while 116 normal people were assigned as controls.Results The genotype frequency distributions of the TFPI gene-287T/C polymorphism were found to accord with the Hardy-Weinberg balance in both CI and control groups.The heterozygosis mutant type TC frequencies were higher in CI group（43.9%） as compared with that in control group（31.0%）（χ2=4.040,P〈0.05）.Furthermore,the C allele gene frequency in CI group is also higher than that in control group（χ2=5.831,P〈0.05）.Nevertheless,the TT frequency in CI group（45.6%） was significantly lower than that in control group（62.1%）（χ2=6.265,P〈0.05）.Conclusion The TFPI-287T/C polymorphism was correlated with the susceptibility of CI.Heterozygous mutation genotype might be the important risk factor to cause CI.