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The Apolipoprotein E genotype in patients affected by syndromes with focal cortical atrophy.

机译:受局灶性皮质萎缩综合征影响的患者的载脂蛋白E基因型。

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摘要

The role of the Apolipoprotein E (APOE) alleles in syndromes associated with focal cerebral atrophy (fronto-temporal dementia, primary progressive aphasia, corticobasal degeneration) is still controversial. We studied the APOE allele distribution in 39 patients with clinically diagnosed syndromes associated with focal cerebral atrophy (FCA), in 50 patients with early-onset probable Alzheimer's disease (EOAD), and in 60 patients with late-onset probable AD (LOAD). The APOE genotype was determined from a blood sample, using polymerase chain reaction and restriction enzyme digestion. The APOE epsilon4 allele frequency was significantly higher in the EOAD (21.0%) and LOAD (33.3%) groups, but not in the FCA group (5.1%), as compared with controls. In our population, the epsilon2 allele frequency was significantly higher in patients with FCA (12.8%) than in controls (4.8%). These results show that the APOE epsilon4 allele is not a risk factor for syndromes associated with FCA. The potential role of the epsilon2 allele in these syndromes needs further investigation.
机译:载脂蛋白E(APOE)等位基因在与局灶性脑萎缩相关的综合症(额颞痴呆,原发进行性失语症,皮质基底膜变性)中的作用仍存在争议。我们研究了39例临床诊断为局灶性脑萎缩(FCA)综合征的患者,50例早期发作的阿尔茨海默氏病(EOAD)和60例晚期发作的AD(LOAD)患者的APOE等位基因分布。使用聚合酶链反应和限制性内切酶消化从血液样本中确定APOE基因型。与对照组相比,EOAD组(21.0%)和LOAD(33.3%)组的APOE epsilon4等位基因频率显着更高,而FCA组(5.1%)没有。在我们的人群中,FCA患者的epsilon2等位基因频率显着高于对照组(4.8%)(12.8%)。这些结果表明,APOE epsilon4等位基因不是与FCA相关综合征的危险因素。 epsilon2等位基因在这些综合征中的潜在作用有待进一步研究。

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