凝血因子Ⅶ基因R353Q多态性与脑梗死的相关性研究

Research on relativity between R353Q polymorphism of the coagulation factor Ⅶ gene and cerebral infarction.

目的探讨我国汉族人凝血因子Ⅶ（FⅫ）基因第八外显子R353Q基因多态性分布及其与脑梗死的相关性。方法应用聚合酶链反应-限制性片断长度多态性的方法（PCR—RFLP），检测100例脑梗死患者及106例正常健康人FⅦ第八外显子R353Q各基因型及R、Q等位基因分布频率。结果脑梗死人群中及正常健康人群中存在FⅦR353Q基因多态性分布，RR及RQ基因型在脑梗死组和正常对照组分布均符合Hardy-Weinberg平衡。脑梗死组中RR基因型91例，RQ基因型9例，QQ基因型0例，各基因型分布频率分别为91．00％（91／100）、9．00％（9／100）、0；R、Q等位基因频率分别为95．50％（191／200）和4．50％（9／200）。健康对照组中RR基因型94例，RQ基因型12例，QQ基因型0例，基因型分布频率分别为88．70％（94／106）、11．30％（12／106）、0；R、Q等位基因频率分别为94．33％（200／212）和5．67％（12／212）。脑梗死组与对照组之间整体基因型分布差异无统计学意义（χ^2=0．3027，P=0．5822）。R、Q等位基因在2组间的分布无统计学意义（χ^2=0．2865，P=0．5925）；Q等位基因携带者的频率在病例组与正常对照组的差异无统计学意义（χ^2=0．2865，P=0．5925）。结论我国汉族人群中存在凝血因子Ⅶ基因的R353Q多态性，不支持Q基因型是脑梗死的保护因子这一观点。

Objective To evaluate the association between R353Q polymorphism of the coagulation factor Ⅶ gene and cerebral infarction in Chinese Han people. Methods Restriction fragment length polymorphism（ PCR- RFLP） methods was adopted to detect FⅦR353Q genotype and R,Q allelomorphic gene frequency of 100 cerebral infarction（CI） patients and 106 healthy people. Results There was FⅦR353Q polymorphism in the CI patients and healthy subjects. RR and RQ genotype could be found in the control group and CI group . RR and RQ genotype disposition consistented with Hardy-weinberg equilibrium. In CI group, RR genotype was in 91 cases, RQ was in 9 cases and QQ in 0 case（ the distribution frequencies were 91.00% ,9.00% and 0）, and in the healthy subjects, those are 94 cases, 12 cases and 0 case（88.70% ,11.30% and 0）. In the control group and CI group ,R allele genotype frequencies were 94.33% and 95.50% , and Q were 5.67% and 4.50% . There was not significantly different in the R353Q polymorphism（ χ^2 = 0. 3027, P = 0.5822） ;Q allele genotype was not significantly different between the cases of control group and CI patients （ χ^2 = 0.2865, P = 0.5925 ） . Conclusion There are the F Ⅶ R353 Q polymorphism in Han population, however, the idea that the Q allele is a protective factor in CI is not supported.