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细胞色素P450 2D6在特发性帕金森病和弥漫性路易体病中的基因多态性。

Genetic polymorphism of cytochrome P450 2D6 in idiopathic Parkinson disease and diffuse Lewy body disease.

作者信息

Bordet R, Broly F, Destee A, Libersa C

机构信息

Service de Neurologie A, CH et U de Lille, France.

出版信息

Clin Neuropharmacol. 1994 Oct;17(5):484-8. doi: 10.1097/00002826-199410000-00014.

Abstract

We investigated genetic polymorphism of the cytochrome P450 CYP 2D6 gene in 105 caucasian patients with idiopathic Parkinson's disease (IPD) and 15 patients with diffuse Lewy body disease (DLBD). The mutations of the CYP 2D6 gene associated with the poor metabolizer (PM) phenotype of the debrisoquine/sparteine polymorphism were analyzed in DNA by a polymerase chain reaction (PCR)-based DNA amplification combined with Xba I restriction fragment length polymorphism (RFLP) analysis. The rate of genotypically defined PM and the frequencies of the mutation D6-B were not significantly different in IPD and DLBD patients. This study fails to find a relationship between CYP 2D6 impairment and neuropathological lesions diffusion in IPD and DLBD. This study cannot exclude involvement of neuronal expression of CYP 2D6.

摘要

我们研究了105例白种人特发性帕金森病(IPD)患者和15例弥漫性路易体病(DLBD)患者细胞色素P450 CYP 2D6基因的遗传多态性。通过基于聚合酶链反应(PCR)的DNA扩增结合Xba I限制性片段长度多态性(RFLP)分析,对DNA中与去甲丙咪嗪/司巴丁多态性的代谢不良者(PM)表型相关的CYP 2D6基因突变进行了分析。在IPD和DLBD患者中,基因分型确定的PM发生率和突变D6 - B的频率没有显著差异。本研究未能发现CYP 2D6损伤与IPD和DLBD中神经病理病变扩散之间的关系。本研究不能排除CYP 2D6神经元表达的参与。

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