同型半胱氨酸和蛋氨酸合成酶还原酶A66G基因多态性与Alzheimer病的关系

The Correlations of Alzheimer's Disease and the Methionine Synthase Reductase Gene Polymorphism and the Plasma Homocysteine Level

目的探讨同型半胱氨酸(H cy)和蛋氨酸合成酶还原酶(M SR)A66G基因多态性与Alzheim er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(PCR-RFLP)和荧光偏振法(FPIA)检测66例Alzheim er病及143例正常人M SR A66G基因多态性和血浆总H cy水平。结果Alzheim er病组M SR A66G基因型频率(%)分别为39.39、59.09和1.52,对照组分别为37.76、59.44和2.80,M SR A66G各种基因型频率在患者组与正常对照组之间的差异无显著性(P>005)。Alzheim er病病例组与对照组血浆H cy分别为(14.72±6.2)μm ol/L和(10.9±2.4)μm ol/L,两者差异有显著差异(P<0.05)。Alzheim er病患者血浆总H cy水平显著高于正常组。结论M SRA66G多态性与Alzheim er病无明显相关,高同型半胱氨酸血症与Alzheim er病发生有一定关系。

Objective To study the correlations of Alzheimer＇s diseases and the poiymorphism of methionine synthase reductase gene and plasma homoeysteine level. Methods The genotypes of （MSR）A66G were determined by PCR-based assay and the plasma homocysteine levels were determined using FPIA method in 66 patients with Alzheimer＇s disease and in 143 healthy controls. Results There were no significant differences in the frequencies of MSR A66G mutations between the patients and healthy controls （P 〉 0.05）. Mean total plasma homocysteine concentrations were significandy higher in the patients than in the normal subjects. Conclusion MSR A66G mutation may not be an independent risk factor of Alzheimer＇s disease. However, hyperhomocysteinemia may be an independent risk factor of Alzheimer＇s disease.