甲基四氢叶酸还原酶基因多态性与阿尔茨海默病相关性探讨

目的探讨阿尔茨海默病(Alzheimerdisease,AD)患者中甲基四氢叶酸还原酶基因的多态性及其与AD的相关性。方法利用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对48例AD患者及86例对照者的甲基四氢叶酸还原酶基因基因进行分型,从而进行AD与甲基四氢叶酸还原酶基因多态性的相关分析。结果(1)AD病人甲基四氢叶酸还原酶基因中,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,RR=2.567),T/T占4.25%,与对照组2.09%有显著性差异(P>0.05,RR=1.086)。AD病人中甲基四氢叶酸还原酶基因等位基因C的频率为67.43%、相对危险率(RR)为0.594,T的频率为32.57%、RR为1.683与对照组的C为80.42%、T为19.58无显著性差异(P>0.05)。结论AD病人中甲基四氢叶酸还原酶基因基因型T/T(MTHFR*T/T)频率明显高于正常人,与AD存在正关联;而MTHER*C/T频率则明显低于正常人,与AD存在负关联。

Inquiring relation between methylene tetrahydrofolate reductase (MTHFR) gene polymorphysm and the Alzheimer desease

Objective To study the distribution of methylene tetrahydrofolate reductase(MTHFR) gene in patients with Alzheimer desease , and analyse the relation between them. Method MTHFRgenotyes of patients with Alzheimer desease and age-matched healthy controls were determined by usingthe polymerphism technique,subsequently to require the ratation between MTHFR allele and AD. ResultsMTHFR T allele of patients obviously was higher than cotrols, but MTHFR C allele of patients waslower than cotrols.CONCLUSIONS:The C677T methylenetetrahydrofolate reductase mutation is associatedwith Alzheimer's disease.Conclusion In ApoE allele , ?4 allele is a genetic suscetible factor inADandACI, ?3 allele is a protection factor.