【摘要】 目的探讨同型半胱氨酸(Hcy)和胱硫醚-β合成酶基因CBS844ins68基因多态性与阿尔茨海默病(alzheimerdisease,AD)的关系。方法运用多聚酶链反应技术和荧光偏振法(FPIA)检测66例阿尔茨海默病及143例正常人CBS844ins68基因多态性和血浆总Hcy水平。结果AD组CBS844ins68D/D、D/I、I/I基因型频率(%)分别为78.79、19.69、1.52,对照组分别为78.32、18.88、2.8,CBS844ins68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>0.05)。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,两者差异有显著性(P<0.05)。AD患者血浆总Hcy水平显著高于正常组。结论胱硫醚-β合成酶多态性与AD无明显相关,高同型半胱氨酸血症与Alzheimer病发生有一定关系。更多还原

【Abstract】 Objective To examine the relationship between polymorphism of cystathionine β-synthase gene (CBS 844ins 68)and plasma homocysteine level in patients with Alzheimer diseases. Methods Sixty-six patients with Alzheimer disease and 143 healthy individuals were examined for the genotyes of cystathionineβ-synthase by PCR-based assay. The levels of plasma homocysteine were determined using FPIA method. Results There was no siganificant difference in the frequency of cystathionine β-synthase mutation between the patients and normal individuals(P>0.05). The mean total plasma homocysteine concentration was significantly higher in patients Alzheimer diseases than in the normal subjects. Conclusion Cystathionine β-synthase may not be an independent risk factor for Alzheimer’s disease and hyperhomocysteinemia may be an independent risk factor for Alzheimer’s disease.更多还原