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新疆维吾尔族和汉族帕金森病Parkin基因S/N 167多态性研究 被引量:1

Polymorphism of Parkin Gene S/N 167 of Parkinson′s Disease in Xinjiang Uygur and Han Nationality
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摘要 目的探讨Parkin基因第4外显子多态性位点S/N 167与新疆维吾尔族(维族)、汉族帕金森病(PD)之间的关系。方法以156例维族、汉族原发性PD患者作为病例组,192例健康体检者作为对照组,提取基因组DNA,采用聚合酶链反应(PCR)扩增所需Parkin基因第4外显子基因片段,用限制性内切酶酶切技术测定病例组和对照组的基因型频率和等位基因频率。结果病例组与对照组S/N 167基因型频率、等位基因频率间差异均无统计学意义(2χ分别为1.759和0.006,P均>0.05);新疆维族病例组与汉族病例组的基因型频率、等位基因频率间差异均无统计学意义(2χ值分别为2.134和1.734,P>0.05)。结论 Parkin基因第4外显子S/N167多态性可能与维族及汉族PD患者的遗传易感性无关。 Objective To observe the association between polymorphism S/N 167 at exon 4 and Parkinson's disease (PD) in Xinjiang Uygurs and Hans. Methods The genetic DNA was extracted from 156 PD patients of Uygur and Han Ethnic group and 192 normal controls. The Parkin gene's exon 4 were amplified by polymerase chain reaction (PCR). Then the exons were digested by restriction fragment length polymorphism. The gene type and allele frequency were identified by agarose gel electrophoresis to observe polymorphism at S/N 167. Results There was no difference between PD group and control group in S/N 167 polymorphism allele and genotype frequency (X2 = 1. 759; 0. 006, P 〉 0. 05). There was no difference between Uygur Eth- nic and Han Ethnic in S/N167 polymorphism allele and genotype frequency (X2 =2. 134; 1. 734, P 〉0. 05). Conclusion Our findings suggest that polymorphism at S/N 167 of Parkin might not be associated with genetic susceptibility in Parkinson disease patients from Uygur ethnic and Han ethnic.
作者 梁晨 杨新玲
出处 《中国全科医学》 CAS CSCD 北大核心 2011年第3期249-251,共3页 Chinese General Practice
基金 新疆维吾尔自治区自然科学基金(2009211A17)
关键词 维吾尔族 汉族 帕金森病 PARKIN基因 多态性 Uygur nationality Han nationality Parkinson disease Parkin gene Polymorphism
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参考文献10

  • 1Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile Parkinsonism [ J]. Nature, 1998, 392 (6676): 605-608.
  • 2Lincoln SJ, Maraganore DM, Lesnick TG, et al. Parkin variants in North American Parkinson's disease: cases and controls [J]. Mov Dis- ord, 2003, 18 (11): 1306-1311.
  • 3李立宏,高国栋.帕金森病基因突变多态性与其家族性和散发性的关系[J].中国临床康复,2005,9(17):13-15. 被引量:4
  • 4赵晓萍,谢惠君,汤国梅,赵武伟,徐玲,苏敬敬,郝怡鑫,任大明.Parkin基因第4号外显子多态性与帕金森病关系的研究[J].中华神经科杂志,2003,36(2):87-89. 被引量:1
  • 5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
  • 6宁玉萍,刘焯霖,徐严明,王玉凯.parkin基因S/N167多态性与散发性帕金森病关联研究[J].中华医学遗传学杂志,2002,19(6):513-514. 被引量:4
  • 7Lacking CB, Chesneau V, Lohmann E, et al. Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease [ J ]. Arch neuvol, 2003, 60 (9) : 1253 -1256.
  • 8Satoh J, Kuroda Y. Association of codon 167 Set/Ash heterozygosity in the parkin gene with sporadic Parkinsonrs disease [J]. Neuroreport, 1999, 10 (13): 2735-2739.
  • 9Mellick GD, Buchanan DD, Hattori N, et al. The Parkin gene S/N 167 polymorphism in Australian Parkinson's disease patients and controls [J]. Parkinsonism Relat Disord, 2001, 7 (2): 89-91.
  • 10Kawahara K, Hashimoto M, Bar - On P, et al. Alpha -- synuelein aggregates interfere with parkin solubility and distribution: Role in the pathogenesis of parkinson disease [J]. Biol Chem, 2008, 283 ( 11 ) : 6979 - 6987.

二级参考文献26

  • 1王新德.帕金森病及帕金森综合征的诊断标准和鉴别诊断[J].中华神经精神科杂志,1985,18(4):256-256.
  • 2[1]Kitada T,Asakawa S,Hattori N,et al.Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.Nature,1998,392:605-608.
  • 3[2]Lucking CB,Durr A,Bonifati V.Association between early-onset Parkinson's disease and mutations in the parkin gene.N Engl J Med,2000,342:1560-1567.
  • 4[3]Lincoln SJ,Maraganore DM,Lesnick TG,et al.Parkin variants in North American Parkinson's disease:cases and controls.Mov Disord,2003,18:1306-1311.
  • 5[5]Toda T,Momose Y,Murata M,et al.Toward identification of susceptibility genes for sporadic Parkinson's disease.J Neurol,2003,250 (Suppl 3):40-43.
  • 6[6]Dekker MCJ,Bonifati1 V,Van Duijn CM.Parkinson's disease:piecing together a genetic jigsaw.Brain,2003,126:1722-1733.
  • 7[7]Satoh J,Kuroda Y.Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.Neuroreport,1999,10:2735-2739.
  • 8[8]Mellick GD,Buchanan DD,Hattori N,et al.The parkin gene S/N167 polymorphism in Australian Parkinson's disease patients and controls.Parkinsonism Relat Disord,2001,7:89-91.
  • 9[10]Lucking CB,Chesneau V,Lohmann E,et al.Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.Arch Neurol,2003,60:1253-1256.
  • 10[11]Oliveri RL,Zappia M,Annesi G,et al.The parkin gene is not involved in late-onset Parkinson's disease.Neurology,2001,57:359-362.

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