多巴胺转运体基因可变数目串联重复多态在帕金森病易感性中的作用

目的　探讨多巴胺转运体 (DopamineTransporter ,DAT)基因可变数目串联重复多态(variablenumberoftandemrepeats,VNTR)在帕金森病的疾病易感性中的作用。　方法　采用扩增片段长度多态法 (Amplifiedfragmentlengthpolymorphism ,Amp FLP) ,在上海汉族人群中选择 14 4例帕金森病患者和 184例健康人 ,进行DAT基因VNTR多态与帕金森病的遗传关联研究。　结果　(1)上海地区汉族人群中 ,DAT基因VNTR多态以 4 80bp重复片段为主 ,其基因频率为 93% ;(2 )帕金森病患者与健康人群间无DAT基因VNTR多态分布的差异 ,该多态与帕金森病亦无关联 (P >0 0 5 )。按发病年龄中位数为界将帕金森病组分层后 ,无论是 <6 0岁组人群 ,还是≥ 6 0岁组人群 ,都不存在该多态性与帕金森病的相关。　结论　上海地区汉族人群中DAT基因多态性与帕金森病无关。

Parkinson''''s disease sensitivity and the 40-bp VNTR polymorphism of DAT gene

Objective To explore the relationship between Parkinson disease (PD)sensitivity and the 40-bp variable number of tandem repeats (VNTR) polymorphism of dopamine transporter (DAT) gene in a Chinese Han population of Shanghai area. Methods Molecular analysis of the VNTR polymorphism of DAT gene was performed with amplified fragment length polymorphism (Amp-FLP). Association analysis was carried out in 144 unrelated idiopathic PD patients and 184 age-matched healthy controls. Results In our samples,10 repeats (480 bp) variant was the dominant allele of DAT VNTR polymorphisms with the allelic frequency 0.93 in PD and 0.90 in control. No significant association was found between this VNTR polymorphism and PD ( P >0.05). Conclusions Our results do not support that DAT VNTR polymorphism is associated with PD in Chinese Han population of Shanghai area.