摘要
目的 探讨同型半胱氨酸 (Hcy)和 5 ,10亚甲基四氢叶酸还原酶 (MTHFR)基因多态性与Alzheimer病的关系。方法 运用多聚酶链反应限制性内切酶片段长度多态性技术 (PCRRFLP)和荧光偏振法 (FPIA)检测 6 6例阿尔茨海默病及 14 3例正常人MTHFR基因多态性和血浆总Hcy水平。结果 (1)AD病人甲基四氢叶酸还原酶基因中 ,基因型C/T占 5 6 .0 6 % ,明显高于对照组的 34.97% (P <0 .0 1,RR =0 .35 5 ) ,C/C占 39.39% ,明显低于对照组的 6 2 .94 % (P <0 .0 1) ,T/T占 4 .2 5 % ,与对照组 2 .0 9%无明显差异 (P >0 .0 5 )。AD病人中甲基四氢叶酸还原酶基因等位基因C的频率为 6 7.4 3%、相对危险率 (RR)为0 .5 94 ,T的频率为 32 .5 7%、与对照组的C为 80 .4 2 %、T为 19.5 8%有显著性差异 (P ≤ 0 .0 5 )。 (2 )AD病例组与对照组血浆Hcy分别为 14 .72± 6 .2 μmol/L和 10 .9± 2 .4 μmol/L ,两者差异有显著差异 (P <0 .0 5 )。AD患者血浆总Hcy水平显著高于正常组。结论 MTHFR基因突变及高同型半胱氨酸血症与Alzheimer病发生有一定关系。
Objective: To study the relationship of polymorphism of MTHFR and plasma homocysteine level with Alzheimer diseases. Methods: The genotyes of MTHFR were determined by PCR-based assay and their plasma homocysteine levels were determined using FPIA Method in 66 patients with Alzheimer disease and 143 healthy controls. Results:Mean total plasma homocysteine concentrations were significantly higher in AD patients than in the normal subjects. MTHFR T allele of patients obviously was higher than controls, MTHFR C alleleof patients was lower than cotrols. Conclusions: The C677T methylenetetrahydrofolate reductase mutation is associated with Alzheimer's disease,MTHFR gene and hyperhomocysteinemia may be independent risk factors for Alzheimer's disease.
出处
《中国优生与遗传杂志》
2004年第3期13-15,共3页
Chinese Journal of Birth Health & Heredity
关键词
同型半胱氮酸
ALZHEIMER病
MIHFR
多态性
Homocysteine
Methylene tetrahydrofolate reductase (MTHFR), Alzheimer disease, Polymorphism
