儿茶酚胺氧位甲基转移酶基因多态性与帕金森病关系的探讨  

Relation between the genetic polymorphism catechol -O-methyltransferase gene and susceptibility of Parkinson′s disease

作　　者：邵明[1] 刘焯霖[1] 陶恩祥[1] 陈彪[1] 

机构地区：[1]中山医科大学附属第一医院神经内科,广州510080

出　　处：《中华神经科杂志》2000年第1期17-19,共3页Chinese Journal of Neurology

摘　　要：目的　探讨儿茶酚胺氧位甲基转移酶 (COMT)基因G1947→A位点突变所致的基因多态性与帕金森病 (PD)遗传易患性的关系。方法　利用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)技术分析了 10 5例帕金森病患者与 115名正常健康成人对照组COMT的基因多态性位点频率。结果　PD组A等位基因频率为 2 5 .7% ,而对照组为 2 6 .5 % ,两组差异不显著。基因型分布频率在PD和对照组之间差异有显著意义 (P =0 .0 45 )。和对照组比较 ,PD组野生型和突变型纯合子 (G/G和A/A)的频率分布有增高趋势 ,而杂合子基因型 (G/A)的分布则有降低趋势。结论　COMT基因A/A和G/G基因型可能与PD的遗传易患性有关 。Objectives To investigate whether Parkinson disease (PD) is associated with genetic polymorphisms of catechol O methyltransferase (COMT) gene caused by the point mutation of G1947→A in exon 4. Methods The polymorphism of COMT gene was analyzed in 105 patients with PD and 115 healthy adult individuals with polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). Results In this study, the frequencies of A allele were 25.7% and 26.5% in the PD ground and the health control group respectively, which was not significantly different between the two groups ( P >0.05). There was a significant difference in the overall genotypical distribution between the patients and the controls ( P =0.045). Comparing to contrals, there was a trend toward an increased frequency of the G/G and A/A homozygote, but a trend toward a decreased frequency of the G/A heterozygote in the PD cases. Conclusion This result suggested that the G/G and A/A homozygote of COMT gene might be associated with the genetic susceptibility to Parkinson′s disease,and the A/G heterozygote of COMT gene might be the protective factor to it.

关 键 词：帕金森病 基因 多态现象 COMT 

分 类 号：R742.5[医药卫生—神经病学与精神病学]