【摘要】 目的 研究PON2 C311S基因多态性与河北地区散发性肌萎缩侧索硬化(SALS)发病易感性的关系。方法 应用聚合酶链式反应-限制性酶切片段长度多态性(PCR-RFLP)方法对河北地区108例SALS患者和117例健康汉族人进行PON2 C311S基因多态性分析。结果 本研究中病例组与健康对照组PON2 C311S基因多态性符合Hardy-Weinberg遗传平衡定律,具有代表性。PON2 C311S基因的三种基因型频率(CC、CG、GG)在病例组和健康对照组中分布无差异(P=0.813)。C和G等位基因在两组中的频率分布无差异(P=0.613)。与CC基因型比较,CG基因型、GG基因型和CG+GG基因型均不增加患ALS的风险。结论 PON2 C311S基因多态性与河北地区SALS的发病不相关。更多还原

【Abstract】 Objective To investigate the relationship between PON2 C311S gene polymorphism and the susceptibility of sporadic amyotrophic lateral sclerosis(SALS) in Hebei region.Methods The polymorphism of PON2 C311S gene in 108 patients with SALS and 117 healthy Han Chinese in Hebei region was analyzed by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).Results The PON2 C311S genotype distribution of the ALS and healthy control group was in good agreement with Hardy-Weinberg equilibrium.There was no significant difference in the distribution of PON2 C311S genotype frequencies(CC,CG,GG) between the ALS group and the healthy control group(P=0.813).There was no difference in the frequency distribution of C and G alleles between the two groups(P=0.613).Compared with CC genotype,CG genotype,GG genotype,and CG+GG genotype did not increase the risk of sporadic ALS.Conclusion PON2 C311S gene polymorphism was not associated with the pathogenesis of sporadic amyotrophic lateral sclerosis in Hebei region.更多还原