帕金森病患者COMT基因多态性与运动并发症的关系

Association between Polymorphism of COMT Gene and Motor Complications in Pakinson's Disease

目的:探讨儿茶酚胺氧位甲基转移酶(COMT)基因第4号外显子G→A点突变所致的基因多态性是否与帕金森病患者的运动并发症有关。方法:分析50例帕金森病患者(分为有运动并发症组和无运动并发症组)与50例健康成人(对照组)COMT基因多态性。结果:3组COMT的基因型分布频率有显著差异(P=0.003)。有运动并发症组与无运动并发症组比较,G/G的基因型显著增高;A/A基因型明显降低(P=0.035)。结论:COMT基因第4号外显子G→A点突变所致的基因多态性与帕金森患者的运动并发症有关。

Objective：Pakinson＇s disease patients is associated with polymorphism of catechol- O- methyltransferase （COMT） gene caused by the point mutation of G1947→A in exon 4. Methods ：The polymorphism of COMT gene was analyzed in 50 healthy adult individuals and 50 PD patients. The group of PD patient was divided into two subgroups in which 25 had motor complications and 25 had no motor complications. Results：There was significant difference in the overall genotypical distribution between the patients and the controls （P =0. 003）. Conclusion： The results suggest that the motor complications in Parkinson＇s disease patients is associated with polymorphism of COMT gene.