多巴胺转运体基因多态性与帕金森病的易感性及PET/CT显像

Relationship between dopamine transporter gene polymorphism and Parkinson's disease susceptibility and PET-CT imagine

目的探讨多巴胺转运体(DAT)基因3'非翻译区可变串联重复序列(VNTR)多态性与内蒙古地区帕金森病(PD)的相关性并分析其机制。方法选取PD患者52例为PD组,健康体检人员60例为对照组。对DAT基因的3'非翻译区VNTR进行基因分型;对20例PD患者和10例对照者进行11C-甲基-N-2β-甲基酯-3β-(4-F-苯基)托烷(11C-β-CFT) DAT正电子发射计算机断层显像(PET)-CT脑显像。结果 VNTR有9R和10R两个等位基因,VNTR的基因型频率和等位基因频率在对照组和PD组差异无统计学意义(P>0. 05)。对照组DAT显像清晰,双侧尾状核、前壳核和后壳核11C-β-CFT放射性摄取均匀对称。PD组尾状核、前壳核和后壳核11C-β-CFT放射性摄取指数与对照组比较显著下降,差异有统计学意义(P<0. 05)。结论 DAT基因VNTR多态性与内蒙古地区PD无明显相关性,VNTR多态性与PD患者纹状体11C-β-CFT放射性摄取无明显相关性。

Objective To explore the relationship and its mechanism between the polymorphism of variable number of tandem repeat（VNTR） in the 3＇ untranslated region of dopamine transporter gene and Parkinson＇ s disease（PD） in Inner Mongolia.Methods Fifty-two outpatients and PD patients were enrolled in the Affiliated Hospital of Inner Mongolia Medical University and 60 healthy subjects were selected as the control group. Genotyping of the 3 ＇untranslated region VNTR of the dopamine transporter gene,11 C-β-CFT dopamine transporter PET-CT brain imaging were performed on 20 PD patients and 10 controls.Results There were no significant differences in VNTR genotype and allele frequencies between the control and the PD group（ P〉0.05）. The control group DAT imaging was clear,bilateral caudate nucleus,anterior cranial nucleus and posterior cranial nucleus 11 C-β-CFT radioactive uptake were symmetrical. The radioactivity uptake index of 11 C-β-CFT in the caudate nucleus,the anterior cranial nucleus and the posterior cranial nucleus of PD patients were decreased significantly.There were significant differences between the PD and the control group（ P〈0.05）. Conclusions VNTR polymorphism of dopamine transporter gene has no obvious correlation with PD in Inner Mongolia and 11 C-β-CFT radioactivity in striatum of PD patients.