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山东大学学报（医学版） ›› 2015, Vol. 53 ›› Issue (4): 71-74.doi: 10.6040/j.issn.1671-7554.0.2014.808

• 临床医学 • 上一篇    下一篇

Parkin基因多态性与山东省汉族帕金森病发病风险的关系

陈思1, 王牧川2, 任楠楠3, 许巍1, 王玲玲1, 栾海辉1, 马俊1, 刘艺鸣1   

  1. 1. 山东大学齐鲁医院神经内科, 山东 济南 250012;
    2. 山东大学医学院, 山东 济南 250012;
    3. 济南市中心医院神经内科, 山东 济南 250013
  • 收稿日期:2014-11-10 修回日期:2015-01-22 出版日期:2015-04-10 发布日期:2015-04-10
  • 通讯作者: 刘艺鸣.E-mail:amyliu@sdu.edu.cn E-mail:amyliu@sdu.edu.cn
  • 基金资助:
    国家自然科学基金(30970990)

Relationship between polymorphisms of Parkin gene and the risk of Parkinson's disease in Han nationality of Shandong Province

CHEN Si1, WANG Muchuan2, REN Nannan3, XU Wei1, WANG Lingling1, LUAN Haihui1, MA Jun1, LIU Yiming1   

  1. 1. Department of Neurology, Qilu Hospital of Shandong University, Jinan 250012, Shandong, China;
    2. School of Medicine, Shandong University, Jinan 250012, Shandong, China;
    3. Department of Neurology, Jinan Central Hospital, Jinan 250013, Shandong, China
  • Received:2014-11-10 Revised:2015-01-22 Online:2015-04-10 Published:2015-04-10

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摘要： 目的 探讨Parkin基因多态性与山东省汉族人群帕金森病(PD)发病之间的关系.方法 应用DNA测序及限制性内切酶酶切技术检测山东省汉族人群中145例PD患者(PD组)及126名健康查体者(对照组)Parkin基因的3个单核苷酸多态(Ser167Asn、Val380Leu及Arg366Trp)的等位基因频率,其中PD组包括早发性帕金森病(EOPD)患者67例与晚发性帕金森病(LOPD)患者78例,分析上述3个多态位点PD发病风险中的意义.结果 PD组与对照组的Ser167Asn、Val380Leu及Arg366Trp 3个多态位点等位基因频率均无明显差异;PD组中EOPD患者Ser167Asn、Arg366Trp位点与LOPD患者相比,等位基因频率亦无明显差异;EOPD患者Val380Leu位点与LOPD患者相比,等位基因频率存在显著性差异(P=0.01, OR=3.39, 95%CI:1.287~8.931).结论 山东省汉族人群Parkin基因Ser167Asn、Val380Leu及Arg366Trp多态位点可能与PD的发病无明显相关性,其中Val380Leu可使PD的发病年龄提前.

关键词: 帕金森病, 血液透析, 护理, Parkin基因, 山东省, 多态性, 凝血, 无肝素

Abstract: Objective To investigate the relationship between polymorphisms in Parkin gene and the risk of Parkinson's disease(PD) in Han nationality of Shandong province. Methods The alleles of three polymorphisms(Ser167Asn,Val380Leu and Arg366Trp)in Parkin gene in 145 PD patients(PD group) and 126 people who undertook health examination(control group) in Han population of Shandong Province were analyzed by DNA sequencing and restricted endonuclease digestion. PD group included 67 patients with early-onset Parkinson's disease(EPOD) and 78 patients with late-onset parkinson's disease(LOPD). Results There were no significant difference in the three polymorphisms(Ser167Asn, Val380Leu and Arg366Trp)between PD group and control group; In PD group, The allele frequencies in Ser167Asn and Arg366Trp of EOPD patients showed no significant difference with LOPD patients. The allele frequency in Val380Leu of EOPD patients was significantly higher than LOPD patients(P=0.01, OR=3.39, 95%CI:1.287-8.931). Conclusion The three polymorphisms(Ser167Asn, Val380Leu and Arg366Trp)in Parkin gene may be not associated with PD in Han nationality of Shandong province, and Val380Leu may make the onset age of PD in advance.

Key words: Polymorphism, Shandong Province, Parkinson's disease, Parkin gene

中图分类号: 

  • R742.5
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