中国人群单胺氧化酶-B基因多态性与帕金森病相关性研究

Relationship between polymorphism of monoamine oxidase type B gene and Parkinson's disease in Chinese

目的 探讨人多巴胺代谢酶 单胺氧化酶B(MAO B)基因内含子 13内核苷酸A/G多态性与帕金森病 (Parkinson’sdisease,PD)遗传易患性的关系。方法 利用聚合酶链反应 变性高压液相技术 (PCR DHPLC)分析了MAO B基因 13内含子A/G多态性在PD患者与健康对照之间分布频率的差异。结果 野生基因型 (A或AA)在总体PD或对照组中的分布频率 77 8%和 74 0 % ,杂合基因型A/G的频率分别为 11 7%和 8 4 % ;突变基因型 (G/G或G)分别为 10 5 %和 17 5 % ,使患PD的危险度降低 1 8倍 (P =0 0 4 ) ;按发病年龄分组 ,突变基因型使患者早发PD的危险度降低 2 4倍 (P =0 0 31)。无论从总体分析 ,还是按发病年龄或性别分组 ,等位基因在各个组的分布频率差异无显著意义。结论 MAO B的A/A(A)基因型是PD发生的危险因素 ,与PD的遗传易患性有关 ,对早发PD影响较大。

Objective To study the relationship between the polymorphism of human monoamine oxidase type B (MAO-B) gene intron 13 A/G locus and Parkinson’s disease (PD).Methods PCR-DHPLC (polymerase chain reaction- denaturing high performance liquid chromatography) was used to detect the polymorphism of MAO-B gene intron 13 A/G site. The frequencies of alleles and genotypes in different PD groups were compared with those of the control groups. Results The frequencies of AA genotype were respectively 77.8% and 74.0% in over-all PD group and control group;however the frequencies of mutant G/G genotype were respectively 10.5% and 17.5% ( P =0.04),indicating the risk of PD decreased by 1.8-fold ( P =0.04). After all patients with PD were separated into two groups according to age-onset,there was difference only between early-onset PD group and the control group,indicating that G/G genotype decreased the risk of early-onset PD by 2.4-fold ( P =0.031). There were no significant differences between different PD groups and control group in frequencies of alleles.Conclusion Our study revealed that there were significant differences between PD group and the control group in genotypic frequencies. The findings supported the hypothesis about an association between MAO-B gene and PD,suggesting that the age-onset of PD might be related to the putative association,and MAO-B gene intron13 A/G site should be a risk factor for PD.