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单胺氧化酶B的基因多态性与帕金森病易感性

Genetic polymorphism of monoamine oxidase B and susceptibility of Parkinson's disease.

作者信息

Hwang W J, Lai M L, Tsai T T, Lai M D

机构信息

Department of Neurology, National Cheng Kung University Medical College, Tainan, Taiwan, R.O.C.

出版信息

Zhonghua Yi Xue Za Zhi (Taipei). 1997 Sep;60(3):137-41.

PMID:9419949
Abstract

BACKGROUND

Monoamine oxidase B (MAO-B) may play a role in the progression and cause of Parkinson's disease (PD), given consideration of the biochemistry and pathophysiology of the disease, and experiments on primates and humans. Assuming that the structural gene determines enzyme activity, an association study was undertaken to examine MAO-B genetic polymorphisms and look for the unique MAO-B gene alleles which occurred at a higher frequency in PD patients.

METHODS

Sixty-five PD patients, diagnosed according to the criteria set by a Core Assessment Program for Intracerebral Transplantations Committee, and 108 healthy controls were enrolled in this study. Genomic DNA was extracted from peripheral leukocytes by using a puregene kit. Polymerase chain reaction (PCR) was used to amplify the MAO-B genome. The PCR products were screened by restriction enzyme Hae III digestion and analyzed by single-stranded conformational polymorphism (SSCP).

RESULTS

Two bands with different mobility shifts, defined as MAO-B allele 1 and allele 2, were observed in SSCP analysis. Neither genotypes nor allelic frequencies of MAO-B showed a significant difference between PD patients and controls in our study.

CONCLUSIONS

Polymorphism of MAO-B genome was demonstrated in this study. It failed to show an association of a genetic marker with PD. However, this did not necessarily exclude the MAO-B locus from playing a role in causing PD because a polymorphism different from the one evaluated here may show some disease association.

摘要

背景

鉴于帕金森病(PD)的生物化学和病理生理学以及在灵长类动物和人类身上所做的实验,单胺氧化酶B(MAO-B)可能在PD的进展和病因中起作用。假设结构基因决定酶活性,开展了一项关联研究,以检测MAO-B基因多态性,并寻找在PD患者中出现频率较高的独特MAO-B基因等位基因。

方法

本研究纳入了65例根据脑内移植核心评估计划委员会制定的标准确诊的PD患者和108例健康对照。使用纯基因试剂盒从外周血白细胞中提取基因组DNA。采用聚合酶链反应(PCR)扩增MAO-B基因组。PCR产物经限制性内切酶Hae III消化筛选,并通过单链构象多态性(SSCP)进行分析。

结果

在SSCP分析中观察到两条迁移率不同的条带,定义为MAO-B等位基因1和等位基因2。在我们的研究中,PD患者和对照组之间MAO-B的基因型和等位基因频率均无显著差异。

结论

本研究证实了MAO-B基因组的多态性。未发现遗传标记与PD之间存在关联。然而,这并不一定排除MAO-B基因座在PD病因中发挥作用,因为与这里评估的多态性不同的多态性可能显示出与疾病的某种关联。

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