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目的 探讨细胞色素P450 2E1 (CYP2E1 )基因 5 侧翼区多态性与帕金森病 (PD)遗传易患性的关系。方法 选择确诊的PD病人1 50例和正常人 1 50例 ,利用聚合酶链式反应和RsaⅠ、PstⅠ限制性片段长度多态性 (RFLP)技术检测CYP2E1基因 5 侧翼区多态性 ,并分析比较PD病人与正常人之间基因型和等位基因分布频率的差异。结果 发现PD病人和正常人之间CYP2E1基因基因型和等位基因的分布频率差异均无显著性。结论 CYP2E1基因 5 侧翼区多态性可能与PD的遗传易患性无关。
Objective To investigate the relationship between the polymorphism of the cytochrome P450 2E1 (CYP2E1) 5 flanking region and the genetic predisposition to Parkinson's disease (PD). Methods One hundred and fifty patients diagnosed with PD were selected and 150 healthy controls. Polymorphisms of CYP2E1 5 flanking region were detected by polymerase chain reaction and Rsa Ⅰ, Pst Ⅰ restriction fragment length polymorphism (RFLP) Differences in genotype and allele frequencies between PD patients and normal subjects. The results showed that there was no significant difference in genotype and allele frequencies of CYP2E1 between PD patients and normal subjects. Conclusion The polymorphism of the flanking region of CYP2E1 gene 5 may not be related to the genetic predisposition of PD.