【摘要】 目的探讨亚甲基四氢叶酸还原酶(MTHFR)C677T、胱硫醚β合成酶(CBS)844 ins 68 基因多态性与阿尔茨海默病(ADl的相关性。方法运用多聚酶链反应技术检测66例AD病人及 143例正常人MTHFR C677T、CBS 844 ins 68基因多态性。结果 (1)AD病人MTHFR基因中,基因型C/T占56．06％,明显高于对照组的34．97％(P<0．01,RR=0．355);C/C占39．39％,明显低于对照组的 62．94％(P<0．01);T/T占4．25％,与对照组2．09％无明显差异(P>0．05)。AD病人中MTHFR基因等位基因C的频率为67．43％、相对危险率R为0．594,T的频率为32．57％,而对照组的C为80．42％,T为 19．58％,差异有统计学意义(P<0．05)。(2)AD组CBS 844 ins 68 D/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,其差异无统计学意义(P>0．05)。结论 MTHFR基因突变与AD发生有一定关系,CBS多态性与AD无明显相关。更多还原

【Abstract】 Objective To explore the correlations between the polymorphism of cystathionine β-synthas gene (CBS 844 ins 68) and Meylene tetrahydrofolate reductase (MTHFR C677T) and Alzheimer’ s disease. Methods The genotyes polymorphism of cjn cystathionine b-synthase and meylene tetrahydrofolate reductase (MTHFR C677T) were determined by PCR-based assay in 66 patients with Alzheimer’s disease and 143 healthy controls. Results (1)In the patients’ methylene tetrahydrofolate reductase, genotype C/T accounted for 56.06%, obviously higher than 34.97% of the control group (P<0.01, RR=0.355). But C/C accounted for 39.39%, obviously lower than that of 62.94 % of the controls (P<0.01). T/T accounted for 4.25%, without significant difference from 2.09% of controls (P>0.05). There were significant differences between the two groups in the frequency of allele C in methylene tetrahydrofolate reductase (67.43% vs. 80.42%, P<0.05) and the frequency of T (32.57% vs. 19.58%, P<0.05). However, there were insignificant differences between the two groups in the frequency of CBS 844 ins 68 D/D, DA, I/I (78.79% vs. 78.32%; 19.69% vs. 18.88%; 1.52% vs. 2.8%, P<0.05, respectively). Conclusion The mutation of C677T methylenete trahydrofolate reductase is associated with Alzheimer’s disease, while Cystathionine β-synthase has no distinct relation with Alzheimer’s disease.更多还原