《中国康复理论与实践》

《中国康复理论与实践》 ›› 2011, Vol. 17 ›› Issue (1): 56-58.

• 论文 • 上一篇    下一篇

泛素特异蛋白酶24基因内含子rs12138592 A/G位点多态性与帕金森病的关系

林智君，陈煜森，冼文川，陈军，钟望涛，许志恩，刑永前，赵斌   

  1. 广东医学院附属医院神经内科，广东湛江市 524001。
  • 收稿日期:2010-11-25 修回日期:1900-01-01 出版日期:2011-01-25 发布日期:2011-01-25
  • 通讯作者: 陈煜森

Association of Intron rs12138592 A/G polymorphism of Ubiquitin Specific Proteases (USP24) Gene with Parkinson Disease

LIN Zhi-jun, CHEN Yu-sen, XIAN Wen-chuan, et al.   

  1. Department of Neurology, the Affiliated Hospital of Guangdong Medical College, Zhanjiang 524001, Guangdong, China
  • Received:2010-11-25 Revised:1900-01-01 Published:2011-01-25 Online:2011-01-25

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摘要： 目的探讨中国粤西地区汉族人群泛素特异蛋白酶24(USP24)基因内含子rs12138592 A/G单核苷酸多态性与帕金森病 (PD)的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法测定81例PD患者(病例组)与100名健康成人(对照组)USP24基因内含子rs12138592 A/G位点多态性。结果病例组GG基因型为77.8%,对照组为62.0%(χ2=5.213,P=0.022)。G等位基因频率在病例组和对照组分别为88.3%和79.5%(χ2=4.980，P=0.026)。结论USP24基因内含子rs12138592 A/G位点的G等位基因与GG基因型均可以增加PD的患病风险。

关键词: 泛素特异蛋白酶24基因, 单核苷酸多态性, 帕金森病

Abstract: ObjectiveTo investigate the relationship between Parkinson disease (PD) and intron rs12138592 A/G polymorphism of ubiquitin specific proteases (USP24) gene in Han population of the Western Guangdong province in China. Methods81 PD cases and 100 ethnically matched controls were investigated USP24 gene rs12138592 A/G polymorphism with polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). ResultsThe incidence of GG genotype was 77.8% in the cases and 62.0% in the controls (χ2=5.213,P=0.022), and the G allele was 88.3% in the cases, 79.5% in the controls (χ2=4.980，P=0.026). ConclusionThe G allele and GG genotype of USP24 gene rs12138592 A/G polymorphism can increase the risk of suffering from PD.

Key words: ubiquitin specific proteases 24 gene, single-nucleotide polymorphism, Parkinson disease