细胞色素P4502D6 基因多态性与帕金森病遗传易感性的关系

目的研究机体解毒系统多态性在帕金森病（ＰＤ）遗传易感性中的作用，以阐明ＰＤ遗传易感性的实质。方法选择ＰＤ病人１００例和年龄、性别基本匹配的正常人１００名，利用聚合酶链反应－限制性片段长度多态等技术检测细胞色素Ｐ４５Ｏ２Ｄ６（ＣＹＰ２Ｄ６）基因的Ａ、Ｂ两种引起酶活性缺乏的突变率和Ｃ１８８→Ｔ、Ｇ４２６８→Ｃ及Ｃ２９３８→Ｔ三种引起酶活性降低的多态性频率。结果结果发现ＰＤ病人ＣＹＰ２Ｄ６基因Ａ、Ｂ突变的频率高于正常对照组，它们的危险度均在２倍以上；而且，ＰＤ病人ＣＹＰ２Ｄ６基因的Ｃ１８８→Ｔ、Ｇ４２６８→Ｃ和Ｃ２９３８→Ｔ的频率也较正常对照组高，尤其是具有Ｃ２９３８→Ｔ等位基因者患ＰＤ的危险度提高了２．５８倍。结论ＰＤ病人ＣＹＰ２Ｄ６酶活性缺乏和降低的基因突变率均高于正常人，提示解毒酶ＣＹＰ２Ｄ６缺陷与ＰＤ发病有一定的关系

Relation of cytochrome P450 2D 6 gene polymorphism with the susceptibility of Parkinson disease

Objective To determine the detoxifying enzymes on the genetic susceptibility of Parkinson disease and clarify the essence of genetic susceptibility of Parkinson disease. Method 100 patients with Parkinson disease and 100 age and sex matched controls were enrolled for study. The polymorphism of cytochrome P450 2D 6 (CYP 2D 6 ) was detected with polymerase chain reaction restriction fragment length polymorphism(PCR RFLP) and Xba I RFLP techniques. The frequencies of polymorphism differences between the patients and controls were compared. Result The frequencies of CYP 2D 6 gene mutation were higher in the patients than in the controls.CYP 2D 6 gene mutation made the risk ratio high in Parkinson disease which increased 2 folds higher than the controls. Conclusion CYP 2D 6 gene mutation brings forth the high risk of suffering in Parkinson disease . It demonstrated that the polymorphism of detoxifying system might be the basis of genetic susceptibility of Parkinson disease.