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帕金森病患者parkin基因多态性位点的研究 被引量:1

Polymorphism of parkin in Parkinson's disease
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摘要 目的 观察汉族帕金森病 (PD)患者中 parkin基因多态性位点等位基因频率 ,探讨 parkin基因多态性位点与PD发病的关系。方法 PD患者组及对照组各 70例。以提取基因组DNA为模板 ,扩增parkin基因的外显子 4、外显子 10 ,然后行酶切与聚丙烯酰胺电泳 ,观察S/N16 7、R/W 36 6、V/L380多态性位点等位基因频率。结果 PD患者组与对照组间三个多态性位点等位基因频率均无明显差异。结论 parkin基因S/N16 7、R/W 36 6、V/L380多态性位点与汉族PD患者的发病无明显相关性。 Objective To observe the allele frequencies of parkin polymorphism in the patients with Parkinson's disease (PD) in the Han nationality population and explore whether parkin polymorphism relate to pathogenesis of PD.Methods Genome DNAs of 70 patients and 70 controls were extracted from peripheral leukocytes. Exon 4 and exon 10 of the parkin gene were amplified by PCR, templated by genome DNAs. Then, these PCR products were digested by restriction enzyme and did PAGE to observe polymorphism at S/N167, R/W366, V/L380.Results There was no significant difference in all 3 alleles.Conclusions Polymorphism at S/N167,R/W366 and V/L380 of parkin is not a role in Parkinson's disease in the Han nationality population.
出处 《卒中与神经疾病》 2003年第2期87-89,共3页 Stroke and Nervous Diseases
基金 湖北省卫生厅第五个三年医药卫生科研计划项目(No .WJ0 15 2 9)
关键词 帕金森病 PARKIN 基因多态性 位点 等位基因频率 PD parkinson's disease Parkin gene Polymorphism
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同被引文献7

  • 1洪雁,张本恕.Parkin基因多态性与帕金森病遗传易患性关系的研究[J].中国现代神经疾病杂志,2006,6(4):291-294. 被引量:10
  • 2[2]Hu CJ,Sung SM,Liu HC,et al.Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan[J].Eur Neurol,2000,44(2):90-93.
  • 3[3]Klein C,Schumacher K,Jacobs H.Association studies of Parkinson's disease and parkin polymorphisms[J].Ann Neurol,2000,48(1):126-127.
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  • 5[6]Hattori N,Mizuno Y.Pathogenetic mechanisms of parkin in Parkinson's disease[J].Lancet,2004,364 (9 435):722-724.
  • 6[7]Satoh J,Kuroda Y.Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease[J].Neuroreport,1999,10(13):2 735-2 739.
  • 7宁玉萍,徐严明,王玉凯,刘焯霖.Parkin基因R/W366及V/L380多态性与散发性帕金森病[J].中国神经精神疾病杂志,2002,28(1):17-19. 被引量:8

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