ASSOCIATION OF A MONOAMINE OXIDASE-B ALLELE WITH PARKINSONS-DISEASE
ASSOCIATION OF A MONOAMINE OXIDASE-B ALLELE WITH PARKINSONS-DISEASE
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DOI：
10.1002/ana.410330406
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发表时间：
1993-04-01
影响因子：
11.2
通讯作者：
SCHWANKHAUS, JD
中科院分区：
文献类型：
--
作者：
KURTH, JH;KURTH, MC;SCHWANKHAUS, JD
单胺氧化酶B（MAO-B）在多巴胺代谢过程中参与神经毒素1-甲基-4-苯基-1，2，3，6-四氢吡啶的代谢并形成H2 O2，因此与帕金森病（PD）的发病有关。在PD血小板中观察到MAO-B活性改变。用聚合酶链反应扩增MAO-B基因的一部分。用限制性酶筛选聚合酶链反应产物，以鉴定可用于单链构象多态性分析的片段。一个单链构象多态性被确定在MAO-B聚合酶链反应产物Hae III消化后。121个对照个体进行等位基因分型，等位基因1和2的频率分别为0.45和0.55。在46例PD患者人群中观察到的频率为0.62和0.38（分别为1和2）。MAO-B等位基因1的存在与2.03倍的PD相对风险相关（置信区间，1.44- 2.61; p < 0.02）。为了比较，单胺氧化酶A多态性被用来确定在这些相同的人群中的等位基因频率，并没有统计学上的显着差异被发现。这些结果表明，MAO-B的遗传变异可能参与遗传易感性PD。
Monoamine oxidase B (MAO-B) is implicated in the cause of Parkinson's disease (PD) because of its role in metabolizing the neurotoxin 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine, and forming H2O2 during dopamine metabolism. Altered MAO-B activity has been observed in PD platelets. Polymerase chain reaction was used to amplify a portion of the MAO-B gene. Polymerase chain reaction products were screened with restriction enzymes to identify fragments useful for single-stranded conformational polymorphism analysis. A single-stranded conformational polymorphism was identified in an MAO-B polymerase chain reaction product after Hae III digestion. One hundred twenty-one control individuals were allelotyped with frequencies of 0.45 and 0.55 for alleles 1 and 2, respectively. Frequencies of 0.62 and 0.38 (1 and 2, respectively) were observed in a population of 46 patients with PD. The presence of MAO-B allele 1 is associated with a relative risk for PD of 2.03-fold (confidence interval, 1.44-2.6 1; p < 0.02). For comparison, a monoamine oxidase A polymorphism was used to determine allelic frequencies in these same populations and no statistically significant differences were found. These results suggest that an inherited variant of MAO-B may be involved in a genetic predisposition for PD.