【摘要】 目的探讨阿尔茨海默病(AD)低密度脂蛋白受体相关蛋白(LRP)基因5’端上游调控区插入序列及外显子3C/T两种多态性。方法应用聚合酶链反应和限制性片段长度多态性方法,检测了56例晚发AD患者和75例正常老年人的LRP基因两种多态性。结果AD组LRP5’端上游调控区插入序列等位基因频率分别为A10.795和A20.205,A1等位基因频率显著高于对照组(X2=8.43,P<0.01);基因外显子3等位基因频率分别为C0.786和T0.214,C等位基因频率显著高于对照组(X2=4.48,P<0.05)。AD与LRP基因5’端上游调控区插入序列多态中的等位基因A1正关联(OR=2.28,P<0.01),与LRP基因外显子多态中的等位基因C正关联(OR=1.83,P<0.05),与等位基因T负关联(OR=0.55,P<0.05)。结论LRPA1等位基因可能是AD发病的危险因素,LRP基因外显子3C等位基因可能促进AD的发病,T等位基因可能具有保护作用。更多还原

【Abstract】 objective: To explore the relationship between the polymorphisms in exon3 gene, tetranucleotide length polymorphism 5’ of low-density lipoprotein receptor-related protein(LRP) gene and Alzheimer’s disease(AD). Methods: The polymorphisms in exon3 gene and tetranucleotide length polymorphism 5’ of LRP gene were detected by using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique in 56 patients with AD and 75 normal controls. Results: The frequency of allele Al and A2 ofLRP exon3 gene were 0.795 and 0.295 respectively in AD patients. The frequency of allele Al increased significantly in patients with AD (X2=8.43, P<0.01). The frequency of allele C and T of LRP tetranucleotide length polymorphism 5’ were 0.786 and 0.214 respectively in AD patients. The frequency of allele C increased significantly in patients with AD (X2=4.48, P<0.05). AD was positively associated with allele Al (OR=2.28,P<O. 05,) for the LRP tetranucleotide length polymorphism; AD was positively associated with allele C (OR=I.83,P<O. 05) and was negatively associated with allele T(OR=O.55,P<O. 05) for the LRP exon 3 polymorphism. Conclusions: Our results indicated that allele A1 of LRP tetranucleotide length polymorphism may increase the risk of the AD. Allele C of LRP exon 3 polymorphism may also increase the risk of the onset of AD, and allele T may protect people from AD.更多还原