帕金森病的神经遗传学关联：载脂蛋白E和细胞色素P450 2D6基因多态性
Neurogenetic correlates of Parkinson's disease: apolipoprotein-E and cytochrome P450 2D6 genetic polymorphism.
作者信息
Bon M A, Jansen Steur E N, de Vos R A, Vermes I
机构信息
Department of Clinical Chemistry, Medical Spectrum Twente, Hospital Group, Enschede, The Netherlands.
出版信息
Neurosci Lett. 1999 May 7;266(2):149-51. doi: 10.1016/s0304-3940(99)00278-5.
Brain tissue of 50 patients with morphological confirmed Parkinson's disease (PD), blood samples from 149 patients with clinical parkinsonism and from 96 healthy control subjects were collected. Apolipoprotein-E (apo E) and cytochrome P450 2D6 (CYP2D6) genotyping were performed by PCR followed by restriction fragment analysis. A significantly higher allele frequency of CYP2D64 was found in patients with PD (35%) but not with parkinsonism (14.1%) compared to control subjects (19.8%). The combined alleles frequency of CYP2D63 + apoE4 was significantly higher not only in the PD group (33.3%) but also in patients with parkinsonism (22.3%) compared to control subjects (1.6%). These results suggest that there is a substantial overlap not only in the clinical manifestation but also in the genetic risk factors between Parkinson's and Alzheimer's diseases.
收集了50例经形态学确诊的帕金森病（PD）患者的脑组织、149例临床帕金森综合征患者及96例健康对照者的血样。采用聚合酶链反应（PCR）及限制性片段分析进行载脂蛋白E（apo E）和细胞色素P450 2D6（CYP2D6）基因分型。与对照者（19.8%）相比，PD患者中CYP2D64的等位基因频率显著更高（35%），而帕金森综合征患者中该频率为14.1%。与对照者（1.6%）相比，CYP2D63 + apoE4的联合等位基因频率不仅在PD组（33.3%）显著更高，在帕金森综合征患者中（22.3%）也显著更高。这些结果表明，帕金森病和阿尔茨海默病不仅在临床表现上，而且在遗传风险因素上都存在大量重叠。
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