MTHFR基因单核苷酸多态性与中国南方汉族阿尔茨海默病的相关性分析

Correlation research between single nucleotide polymorphism of methylenetetrahydrofolate reductase and Alzheimer 's disease in South China Han people

目的:探讨中国南方汉族人群中阿尔茨海默病(AD)的发生与5,10-亚甲基四氢叶酸还原酶(Methylenetetrahydrofolate reductase,MTHFR)基因677位点单核苷酸多态性(677C→T突变)的关系。方法:利用聚合酶链式反应-限制性片段长度多态性(PCR–RFLP)技术,检测45例AD患者和48例健康老年人的MTHFR基因的单核苷酸多态性,并加以对照分析。结果:AD患者MTHFR基因677位点的各基因型分布与对照组间无显著差异(P>0.05)。AD组和对照组间C、T基因频率分布差异也无统计学意义(P>0.05),但AD组中,T基因的频率略高于对照组。结论:本研究中MTHFR基因677位点单核苷酸多态性(677C→T突变)不是AD发病的致病因素,但可能对AD有一定影响。

Objective:To investigate the relationship between single nucleotide polymorphism(677C → T) of methylenetetrahydrofolate reductase and Alzheimer 's disease(AD) in South China Han people. Methods:By applying polymerase chain reaction and restriction fragment length polymorphism(PCR-RFLP), MTHFR 677 C → T mutation Was detected in 45 AD patients and 48 healthy controls. Results:The frequency of MTHFR 677 C, T mutation of patients showed no significant difference to that of healthy controls(P>0.05). There is no statistic significance between AD group and controls in C → T gene frequency(P>0.05). But T gene frequency is higher in AD group than in control group. Conclusion:MTHFR C677 T is not t He pathogenic factor for AD, but could have some effects on AD.