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[墨西哥西北部帕金森病患者α-突触核蛋白基因IVS4+66A-G多态性的频率]

[Frequency of the IVS4+66A-G polymorphism in the alpha-synuclein gene in patients with Parkinson's disease in north-western Mexico].

作者信息

Ramírez-Jirano L J, Ruiz-Sandoval J L, Jiménez-Gil F J, Ramírez-Vega J, Vargas-Frutos E, Gallegos-Arreola M P

机构信息

Laboratorio de Genética Molecular, División de Medicina Molecular, CIBO-IMSS, Jalisco, México.

出版信息

Rev Neurol. 2007;44(1):15-7.

Abstract

INTRODUCTION

Parkinson disease (PD) is the second most common neurodegenerative disease of adult onset. Is a progressive movement disorder including tremor, bradykinesia, rigidity and postural instability, with an age onset between 43 and 66 years. Histopathologically, is characterized by a severe loss of dopaminergic neurons in the substantia nigra and inclusions consisting of insoluble protein aggregates called Lewy bodies, this are comprised in part of alpha-synuclein. The etiology of PD is still not fully understood, but genetic analyses, epidemiologic studies and experimental models of PD are providing important new insights into the pathogenesis of PD.

AIM

To determine allelic and genotypic frequencies of polymorphism IVS4+66A-G in the alpha-synuclein gene and to demonstrate its association with PD in northwest Mexican population.

SUBJECTS AND METHODS

Genomic desoxyribonucleic acid (DNA) from 51 PD patients and 121 persons without PD were achieved by polymerase chain reaction and analyzed the allelic and genotypic distribution in IVS4+66A-G polymorphism of alpha-synuclein gene.

RESULTS

The genotypic frequency of IVS4+66AA was 43.1% in PD patients and 38.8% in control group; IVS4+66GG was 2% in PD patients and 4.1% in control group, whereas 54.9% in PD patients and 57.1% in control group were heterozygous. Statistical differences were not observed between groups (p<0.05).

CONCLUSIONS

Association was not observed between the IVS4+66A-G polymorphism and PD.

摘要

引言

帕金森病(PD)是成人期第二常见的神经退行性疾病。它是一种进行性运动障碍,包括震颤、运动迟缓、僵硬和姿势不稳,发病年龄在43至66岁之间。在组织病理学上,其特征是黑质中多巴胺能神经元严重缺失以及存在由称为路易小体的不溶性蛋白质聚集体组成的包涵体,路易小体部分由α-突触核蛋白组成。PD的病因仍未完全了解,但PD的基因分析、流行病学研究和实验模型正在为PD的发病机制提供重要的新见解。

目的

确定α-突触核蛋白基因多态性IVS4 + 66A - G的等位基因和基因型频率,并证明其与墨西哥西北部人群PD的关联。

对象与方法

通过聚合酶链反应获得51例PD患者和121例非PD患者的基因组脱氧核糖核酸(DNA),并分析α-突触核蛋白基因IVS4 + 66A - G多态性的等位基因和基因型分布。

结果

PD患者中IVS4 + 66AA的基因型频率为43.1%,对照组为38.8%;PD患者中IVS4 + 66GG为2%,对照组为4.1%,而PD患者中杂合子为54.9%,对照组为57.1%。两组之间未观察到统计学差异(p<0.05)。

结论

未观察到IVS4 + 66A - G多态性与PD之间存在关联。

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