【摘要】 目的探讨胆固醇24S-羟化酶(CYP46)基因多态性是否为散发性阿尔茨海默病(SAD)的遗传易感基因。方法选择SAD患者108例作为SAD组,同期选择年龄、性别相匹配的健康老年人118例作为对照组,用变性高效液相色谱法对CYP46基因的核苷酸序列进行扫描,比较2组变异位点的基因型和等位基因频率分布。结果在外显子-内含子交界区检出10个不同的变异位点,5个多态性位点(IVS2—150A>G,IVS3+43C>T,IVS3—130C>T,IVS5+51G>C,IVS7—65T>C)是较好的遗传标记。SAD组和对照组在IVS2—150A>G基因型AG+GG的分布频率差异无统计学意义(χ~2=1.369,P=0.242);SAD组和对照组等位基因G的分布频率差异无统计学意义(χ~2=0.003,P=0.956)。SAD组和对照组携带载脂蛋白E(apoE)ε4与非携带apoEε4者上述基因分布差异均无统计学意义(P>0.05)。IVS2—150A>G与SAD无相关性。结论 CYP46是一个较为保守的基因,其内含子2上的多态性位点IVS2—150A>G与SAD的发病无关。更多还原

【Abstract】 Objective To investigate the association of polymorphism of CYP46 gene of cholesterol 24S-hydoxylase with sporadic Alzheimer’s disease (SAD).Methods 108 SAD patients were selected as SAD group and 118 age and gender-matched healthy elderly served as control group.The sequence variants were analyzed by denaturing high performance liquid chromatography.The differences in the distribution of genotype or allele between the 2 groups were compared.Results Ten different suquence variants of CYP46 were identified,of which five SNPs(IVS2-150A>G, IVS3+43C>T,IVS3-130C>T,IVS5+51G>C,IVS7-65T>C) were good genetic markers. No statistical difference was observed in genotype (P = 0.242) or allele frequencies (P = 0.956) for intron 2 polymorphism IVS2-150A>G between the 2 groups.When data were stratified by apoEe4 carrier status,no statistical difference was observed either.Conclusion The data of present study suggest that CYP46 is a conservative gene.The intron 2 polymorphism IVS2-150A>G does not affect the risk of SAD in northern ethnic Han Chinese population.更多还原