多巴胺突触前膜转运载体基因多态性与帕金森病

Association between dopamine transporter gene polymorphism and Parkinson's disease

目的 研究多巴胺突触前膜转运载体 (dopamine transporter,DAT)的基因多态性与帕金森病 (Parkinson's disease,PD)的关系。方法 比较了 85名健康对照和 12 8例 PD患者 (包含发病年龄小于或等于 5 0岁的早发型 PD亚组和发病年龄大于 5 0岁的晚发型 PD亚组 )的 DAT基因串联重复可变数(variable number of tandem repeat,VNTR)多态性分布。结果 该多态性位点的基因型和等位基因分布在对照组和 PD患者之间差异有显著性 ;晚发型 PD与 7拷贝等位基因强相关 ,与 11拷贝等位基因弱相关 ,早发型 PD主要与 9拷贝等位基因相关。结论 该结果不仅支持 DAT与 PD相关的假说 ,而且提示了DAT基因 VNTR多态性与 PD发病年龄的可能关系。

Objective: To detect the association between dopamine transporter gene polymorphism and Parkinson's disease (PD). Methods: The authors analyzed the difference in the distribution of the variable number tandem repeat (VNTR) polymorphism within the 3' untranslated region of the DAT gene between 85 normal controls and 128 PD patients that were further divided into the senile subgroup (aged> 50 years at onset of PD) and the early-onset subgroup (aged&le50 years). Results: There were significant differences in genotypic and allelic distribution between the control group and the PD group. The senile PD was strongly associated with the 7-copy allele and weakly with the 10-copy allele, and the early-onset PD was mainly associated with the 9-copy allele. Conclusion: The findings not only support an association between DAT gene and PD but also suggest the relationship of the 3'VNTR polymorphism of DAT gene with the age at the onset of PD.