目的 探讨多巴胺代谢酶--单胺氧化酶B(MAO-B)基因13内含子G/A多态性与帕金森病(PD)的关系.方法 应用PCR-限制性片段长度多态性(RFLP)技术检测166例PD患者(其中早发型52例,晚发型114例)和170名正常对照者的MAO-B基因13内含子G/A位点的基因型和等位基因,比较分析其分布情况.结果 PD组与正常对照组MAO-B基因野生型(AA)、杂合型(AG)、突变型(GG)频率及等位基因频率差异无统计学意义;PD早发型亚组的AA型(80.8%)和A等位基因型频率(86.5%)显著高于晚发型亚组(60.5%,71.5%)及正常对照组(60.6%,71.5%)(均P<0.05);PD晚发型亚组与正常对照组各基因型和等位基因频率的差异无统计学意义;PD男性及女性亚组与同性别正常对照组的基因型和等位基因频率的差异均无统计学意义.结论 MAO-B基因13内含子AA型和A等位基因频率增高是PD发病的危险因素之一;MAO-B基因13内含子G/A多态性与PD,尤其是与早发型PD的遗传易感性有关.%Objective To explore the relationship between the polymorphism of monoamine oxidase B( MAOB) gene intron 13 G/A and Parkinson disease (PD). Methods PCR-Restriction Fragment Length Polymorphism (RFLP) was used to detected the MAO-B gene intron 13 G/A genotype and allele in 166 PD patients ( PD earlyonset 52 cases, late-onset 114 cases) and 170 normal controls, and the distribution was compared. Results The frequenics of mild genotype (AA), heterozygote genetype (AG) and mutant genotype (GG) had no statistical significant between PD group and normal control group. The frequencies of genotype AA ( 80.8％ ) and allele A (86. 5％ ) in PD early-onset subgroup were statistically higher than those in late-onset subgroup (60.5％ ,71.5％ ) and normal control group (60.6％ ,71.5％ ) ( all P ＜0. 05 ). There was no difference of genotype and allele between in PD late-onset subgroup and normal control group. Which also had no statistical significance between PD group and the control group with the same sex. Conclusions The frequencies increasing of the genotype AA and allele A of MAO-B gene intron 13 G/A are the risk factors of PD onset. The Polymorphism of MAO-B gene 13 intron G/A is related to PD, especially to the predisposition of the early-onset PD.
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