期刊文献+

中国帕金森病患者儿茶酚-O-甲基转移酶及单胺氧化酶B基因的多态性分析 被引量:2

Polymorphisms of catechol-O-methyltransferase and monoamine oxidase B genes among Chinese patients with Parkinson's disease
原文传递
导出
摘要 目的研究中国帕金森病患者儿茶酚-O-甲基转移酶(eatechol-O-methyltransferase,COMT)及单胺氧化酶B(monoamineoxidaseB,MAOB)基因的多态性分布。方法研究对象为由中国帕金森病研究协作组收集的来自全国共29个研究中心的1408例帕金森病患者。抽取静脉血提取基因组DNA,应用DNA自动测序仪,采用Sanger双脱氧链终止法检测COMT和MAOB的基因型。结果COMTrs4680AA、AG、GG基因型的频率分别为8.9%、42.0%、49.1%;COMTrs4818CC、CG、GG基因型的频率分别为42.5%、45.6%、11.9%;MAOBrs1799836A/AA、AG、G/GG基因型的频率分别为74,4%、14.1%、11.5%;COMTrs4680和MAOBrs1799836基因型同时为高活性的比例为36.86%。结论中国帕金森病患者COMT及MAOB基因多态性分布特点具有其独特特征,可能与帕金森病患者药物疗效差异存在一定的相关性。 Objective To study polymorphisms of catechol-O-methyhransferase (COMT) and monoamine oxidase B (MAO-B) genes among Chinese patients with Parkinson' s disease. Methods Genotypes of the COMT and MAO-B genes of 1408 patients with Parkinson's disease was sequenced using Sanger method. And these patients were recruited by Chinese Parkinson Study Group from 29 research centers throughout the country. Results The genotypic frequencies of COMT rs4680 AA, AG, GG were 8. 9% ,42.0% and 49.1%. Those of rs4818 CC, CG, GG were 42. 5%, 45.6% and 11.9%, respectively. The genotype frequencies of MAO-B rs1799836 A/AA, AG, G/GG were 74.4%, 14. 1% and 11. 5%, respectively. The haplotype formed by COMT rs4680 (GG) and MAOB rs1799836 (A/AA) genotype has a frequency of 36.86 %. Conclusion Polymorphisms of COMT and MAO-B genes has a unique characteristics among Chinese patients with Parkinson's disease. They may be related with differences in drug response in such patients.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2015年第1期1-5,共5页 Chinese Journal of Medical Genetics
基金 瑞士诺华制药有限公司科研基金 国家高技术研究发展计划(863计划)项目(2006AA02A408,2012AA02A514) 广东省科学技术厅项目(20098030801355,20128061700050) 志谢中国帕金森病研究协作组成员在研究对象征集及研究所用帕金森患者静脉血样本采集工作中做出了巨大贡献,谨在此予以衷心的感谢.中国帕金森病研究协作组由以下成员组成(按提供研究对象多少排序):陈彪、邵明、徐严明、冯涛、梁战华、包华、刘艺鸣、管小婷、叶钦勇、陈海波、沈霞、陈秋慧、颐平、许予明、吕文、刘平、陈玲、刘春风、于宝成、徐远、万新华、张宝荣、陈生弟、罗本燕、王萍、孙圣刚、王震宇、陈新平、禤彩霞.
关键词 帕金森病 遗传多态性 儿茶酚-O-甲基转移酶 单胺氧化酶B Parkinson' s disease Genetic polymorphism Catechol-O-methyltransferase Monoamine oxidase B
  • 相关文献

参考文献18

  • 1邵明,刘焯霖,陶恩祥,陈彪.中国汉族人儿茶酚胺氧位甲基转移酶基因多态性[J].中华医学遗传学杂志,2000,17(3):215-215. 被引量:13
  • 2Daniel SE,Lees AJ. Parkinson’s Disease Society Brain Bank,London: overview and research[J]. J Neural Transm,1993,39(Suppl): 165-172.
  • 3Torkaman-Boutorabi A, Ali Shahidi G,Choopani S,et al.Association of monoamine oxidase B and catechol-O-methyltransferase polymorphisms with sporadic Parkinson ’ sdisease in an Iranian population[J]. Folia Neuropathol,2012,50(4) : 382-389.
  • 4Lotta T,Vidgren J, Tilgmann C, et al. Kinetics of humansoluble and membrane-bound catechol-O-methyltransferase : Arevised mechanism and description of the termolabile variant ofthe enzyme[J]. Biochemistry, 1995,34(13): 4202-4210.
  • 5Chen J, Lipska BK,Halim N,et al. Functional analysis ofgenetic variation in catechol-O-methyltransferase ( COMT):Effects on mRNA,protein, and enzyme activity in postmortemhuman brain[J]. Am J Hum Genet,2004,75.5) : 807-821.
  • 6Goudreau JL, Maraganore DM, Farrer MJ,et al. Case-controlstudy of dopamine transporter-1, monoamine oxidase-B, andcatechol-O-methyltransferase poly-morphisms in Parkinson f sdisease[J], Mov Disord* 2002,17(6) : 1305-1311.
  • 7Kiyohara C, Miyake Y,Koyanagi M, et al. Geneticpolymorphisms involved in dopaminergic neurotransmission andrisk for Parkinson’s disease in a Japanese population[J]. BMCNeurol, 2011,11: 89.
  • 8Nackley AG, Shabalina SA,Tchivileva IE, et al. Humancatechol-O-methyltransferase haplotypes modulate proteinexpression by altering mRNA secondary structure[J], Science,2006, 314(5807):1930-1933.
  • 9Roussos P,Giakoumaki SG,Bitsios P. Tolcapone effects ongating, working memory, and mood interact with thesynonymouscatechol-O-methyltransferasers4818c/gpolymorphism[J]. Biol Psychiatry, 2009,66(11) : 997-1004.
  • 10Bialecka M, Kurzawski M,Klodowska-Duda G, et al. Theassociation of functional catechol-O-methyltransferase haplotypeswith risk of Parkinson, s disease, levodopa treatment response,and complications[J]. Pharmacogenet Genomics, 2008,18(9):815-821.

共引文献26

同被引文献12

引证文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部