论文部分内容阅读
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 study the relationship between polymorphism of dopamine transporter (dopamine transporter, DAT) and Parkinson’s disease (PD). Methods DAT gene tandem repeat variable was compared between 85 healthy controls and 12 8 PD patients (including early-onset PD subgroups at age of onset less than or equal to 50 years and late-onset PD subtypes older than 5 years of age at onset) (variable number of tandem repeat, VNTR) polymorphism distribution. Results The genotype and allele distribution of the polymorphic loci showed significant difference between the control group and PD patients. The late onset PD was strongly associated with the 7-copy allele and weakly associated with the 11-copy allele, Hairstyle PD is mainly associated with the 9-copy allele. Conclusions This result not only supports the hypothesis that DAT is associated with PD, but also suggests the possible relationship between the VNTR polymorphism of DAT gene and the age at onset of PD.