摘要
目的 :探讨 4种多巴胺递质代谢相关蛋白COMT ,DBH ,DAT和MAOB基因的多态性与上海地区居民帕金森病易感性的关系。方法 :用聚合酶链反应和限制性长度片段多态性 (PCR/RFLP)技术检测 4种多巴胺能递质代谢相关蛋白基因多态性。对 1 4 4名原发性帕金森病患者和 1 88名年龄相匹配的健康人进行相关性分析。结果 :与健康人相比 ,帕金森病患者DBH基因型或等位基因的分布不同 ,两组之间的差异有统计学意义 (DBH等位基因 :χ2 =6 .2 0 2 ,df=1 ,P =0 .0 1 3,A2 /A2 基因型 :OR =2 .0 86 ,95 %CI:1 .2 2 5～ 3.5 5 2 ) ;其余 3个基因的结果如下 :COMTMet1 0 8Val多态性 (等位基因 :χ2 =0 .0 35 ,df=1 ,P =0 .85 2 ;基因型 χ2 =1 .5 4 6 ,df=2 ,P =0 .4 6 2 ) ;DAT基因 4 0bp可变数目串联重复多态性 (等位基因 :χ2 =4 .0 91 ,df=3,P =0 .2 5 ;基因型 :χ2 =7.1 73,df=6 ,P =0 .31 ) ;MAOB(GT) n重复序列多态性 (χ2 =1 4 .799,df=9,P =0 .0 97)。结论
Objective:To investigate the correlation between the polymorphism of four candidate genes involved in dopaminergic neurotransmission_COMT, DBH, DAT, MAOB and the susceptibility of Shanghai Chinese Han population to Parkinson′s disease. Methods:Genetic polymorphism of COMT, DBH, DAT and MAOB were investigated by PCR/RFLP in 144 sporadic idiopathic Parkinson′s disease patients and 188 age_matched healthy controls. Results: Compared with controls, the polymorphic distribution of DBH gene intron TaqI polymorphism in Parkinson′s disease cases was significant(for alleles, χ 2=6.202, df=1, P =0.013; for genotypes, χ 2=7.934, df=2, P =0.189). There were statistical differences observed between Parkinson′s disease cases and healthy subjects in the genotypic or allelic distribution of DBH gene (A 2/A 2 genotype, OR=2.086, 95%CI: 1.225- 3.552) , but not in COMT, DAT and MAOB genes. Conclusions: The polymorphisms of DBH gene play a role in the susceptibility of Shanghai Chinese Han population to Parkinson′s disease.
出处
《军事医学科学院院刊》
CSCD
北大核心
2003年第3期199-201,229,共4页
Bulletin of the Academy of Military Medical Sciences
