Peng D, Xu X, Feng Y
Department of Neurology, Beijing Hospital, Beijing 100730, China.
Zhonghua Nei Ke Za Zhi. 2001 Oct;40(10):688-90.
To study the association of Alzheimer disease (AD) with apolipoprotein E (ApoE) epsilon 4 allele and to find the biological peripheral markers for the laboratory diagnosis of AD.
107 patients with AD, 68 patients with vascular dementia (VD) and 74 sex- and age-matched non-demented healthy individuals (NDC) were collected. DNA from patients and healthy individuals was extracted from peripheral blood samples with the phenol-chloroform procedure and ApoE was investigated with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).
The frequency of epsilon 4 was significantly higher in AD than that in VD and NDC and there was no difference in the frequency of epsilon 4 between VD and NDC. The age at onset of the disease in the group carrying two epsilon 4 alleles was significantly younger than that in the group with one epsilon 4 allele in AD. Moreover, in comparison with AD patients without epsilon 4 allele, the age at onset in the group with one epsilon 4 allele was younger. Patients with epsilon 4 or without epsilon 4 allele in VD patients did not differ significantly in age at onset. Meanwhile, 3 familial AD cases were found, all carrying epsilon 4 allele.
AD and ApoE4 were closely related. ApoE epsilon 4 was a dangerous factor of AD and ApoE 4 allele made contribution to the heterogenicity of AD.
研究阿尔茨海默病(AD)与载脂蛋白E(ApoE)ε4等位基因的关联,并寻找用于AD实验室诊断的生物学外周标志物。
收集107例AD患者、68例血管性痴呆(VD)患者和74例性别及年龄匹配的非痴呆健康个体(NDC)。采用酚-氯仿法从患者和健康个体的外周血样本中提取DNA,并用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)方法检测ApoE。
AD患者中ε4的频率显著高于VD患者和NDC,而VD患者和NDC中ε4的频率无差异。AD患者中携带两个ε4等位基因的组发病年龄显著低于携带一个ε4等位基因的组。此外,与无ε4等位基因的AD患者相比,携带一个ε4等位基因的组发病年龄更年轻。VD患者中有ε4或无ε4等位基因的患者发病年龄无显著差异。同时,发现3例家族性AD病例,均携带ε4等位基因。
AD与ApoE4密切相关。ApoEε4是AD的危险因素,ApoE 4等位基因对AD的异质性有影响。