多巴胺转运载体基因多态性及帕金森病遗传易感性的关系

目的 探讨多巴胺转运载体（ＤＡＴ）基因３’ＶＮＴＲ多态性与帕金森病（ＰＤ）遗传易感性的关系。方法 选择确诊的ＰＤ患者１７１例和正常人１８０名，利用ＰＣＲ扩散增片段长度多态性（Ａｍｐ－ＦＬＰ）技术检测ＤＡＴ基因３’ＶＮＴＲ多态性，并分析比较ＰＤ组与对照组之间多态性频率的差异。结果 发现ＰＤ组和对照组之间ＤＡＴ基因３’ＶＮＴＲ多态位点基因型分布和等位基因频率差异均有显著意义（Ｐ〈０．０５）。ＤＡＴ基因

Associationbetween genetic polymorphism of dopamine transporter gene and susceptibility toParkinson's disease

OBJECTIVE: To explore the association between genetic polymorphism of dopamine transporter (DAT) gene and susceptibility to Parkinson's disease (PD). METHODS: The polymorphism of DAT 3' VNTR was analyzed in 171 PD patients and 180 unrelated healthy controls with amplification fragment length polymorphism (Amp-FLP). RESULTS: Five alleles of the DAT 3' VNTR were detected, consisting of 7, 8, 9, 10 and 11 copies of the 40 bp repeated sequence. The 10-copy allele was the most common one in both patients and controls. There were significant differences in both allelic and genotypic distributions of the DAT 3' VNTR between the patient and control groups (P = 0.016, P = 0.03, respectively; Fisher's exact test). The frequency of the 11-copy allele was significantly higher in patients (4.4%) than in controls (1.1%), with an odds ratio of 4.08 (95% confidence interval 1.25 approximately 14.7, P = 0.008). CONCLUSION: DAT 3' VNTR 11-copy allele is a genetic factor susceptible to PD in the population tested.