期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

VIPR2拷贝数变异检测方法的建立及应用

Establishment and application of VIPR2 copy number variation detection method
下载PDF
导出
摘要 目的建立VIPR2基因拷贝数变异检测方法,并应用于VIPR2拷贝数变异与精神分裂症的相关性研究中。方法将2010年11月至2012年8月南京医科大学附属无锡市精神卫生中心收治的310例精神分裂症住院患者纳入精神分裂症组,同期选择300例健康志愿者纳入健康对照组。采用多重竞争性实时荧光定量聚合酶链反应法,对610例受试者进行VIPR2微重复分析。结果精神分裂症组中VIPR2拷贝数变异检测阳性率为0.97%(3/310),健康对照组VIPR2拷贝数变异检测阳性率为0.00%(0/300),两组比较差异无统计学意义(χ2=1.275,P=0.259)。结论多重竞争性聚合酶链反应法能对多位点拷贝数变异进行快速分型,是验证拷贝数变异的有效方法。 Objective To establish a method detecting VIPR2 copy number variation ,and to apply it in the a-nalysis on the relationship between VIPR2 copy number variation and schizophrenia .Methods A total of 310 patients with schizophrenia from Nov .2010 to Aug .2012 in Mental Health Center in Wuxi City Affiliated to Nanjing Medical University were selected into schizophrenia group ,and 300 healthy people were recruited into control group .Polymer-ase chain reaction（PCR）method were used to analyze the VIPR2 copy number .Results The positive rate of VIPR2 copy number variation in the schizophrenia group and control group were 0 .97% （3/310）and 0 .00% respectively ,and there was no significant difference between the two groups （χ2 = 1 .275 ,P= 0 .259） .Conclusion PCR could be an ef-fective method to confirm VIPR2 copy number variation .
作者 袁建民 金春慧 俞水 王继东
机构地区 南京医科大学附属无锡市精神卫生中心
出处 《检验医学与临床》 CAS 2014年第20期2824-2827,共4页 Laboratory Medicine and Clinic
基金 江苏省无锡市科技局科研项目(CSZON1316) 江苏省无锡市卫生局卫生科研项目(Q201208)
关键词 精神分裂症 VIPR2基因 拷贝数变异 多重竞争性实时荧光定量聚合酶链反应法 schizophrenia VIPR2 gene copy number variation polymerase chain reaction method
分类号 R979.1 [医药卫生—药品]
  • 相关文献

参考文献12

  • 1Vacic V,McCarthy S, Malhotra D,et al. Duplications ofthe neuropeptide receptor gene VIPR2 confer significantrisk for schizophrenia [J]. Nature,2011,471 ( 7339) : 499-503.
  • 2Levinson DF’Duan J,Oh S,et al. Copynumber variants inschizophrenia: confirmation of five previous findings andnew evidence for 3q29 microdeletions and VIPR2 duplica-tions[J]. Am J Psychiatry,2011,168(3) :302-316.
  • 3赵亚丽,张克让,许琪,沈岩.代谢型谷氨酸受体7基因的拷贝数变异与精神分裂症的相关性[J].中国医学科学院学报,2009,31(6):664-668. 被引量：2
  • 4陈碧媛,邹小兵,章钧,邓红珠,李建英,李丽英,唐春,邹园园.中国儿童孤独症SHANK3拷贝数变异及其临床表型特征[J].中华儿科杂志,2011,49(8):607-611. 被引量：5
  • 5张海南,廖冰,聂利珞,郭纪锋,王春喻,张学伟,严新翔,唐北沙.PINK1基因外显子拷贝数分析方法的建立及应用[J].中华医学遗传学杂志,2010,27(2):158-161. 被引量：1
  • 6Katayama T, Hattori T,Yamada K,et al. Role of thePACAP-PAC1-DISC1 and PACAP-PACl-stathminl sys-tems in schizophrenia and bipolar disorder: novel treat-ment mechanisms[J], Harmacogenomics, 2009 , 10 ( 12):1967-1978.
  • 7Matsuzaki S,Tohyama M. Regulation of pituitary adenylylcyclase-activating polypeptide ( PACAP, ADCYAPI : ade-nylyl cyclase-activating polypeptidel) in the treatment ofschizophrenia [ J]. Expert Opin Ther Targets, 2008,12(9):1097-1108.
  • 8Moody TW,Ito T, Osefo N, et al. VIP and PACAP: re-centinsights into their functions/roles in physiology anddisease from molecular and genetic studies[J]. Curr OpinEndocrinol Diabetes 0bes,2011 ,18(1) :61-67.
  • 9Solinas-Toldo S. Lampel S, Stilgenbauer S,et al. Matrix-based comparative genomic hybridization: biochips toscreen for genomic imbalances [J]. Genes ChromosomesCancer,1997,20(4) :399-407.
  • 10Pfeifer D,Pantic M,Skatulla I,et al. Genome-wide analy-sis of DNA copy number changes and LOH in CLL usinghigh-density SNP arrays[J]. Blood,2007,109 (3) : 1202-1210.

二级参考文献42

  • 1Kitada T, Asakawa S, Hattori N, et al. Mutations in the Parkin gene cause autosomal recessive juvenile Parkinsonism. Nature, 1998, 392:605-608.
  • 2Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early onset Parkinson's disease caused by mutations in PINK1. Science, 2004, 304 :1158-1160.
  • 3Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in theDJ-1 gene associated with autosomal recessive early onset parkinsonism. Science, 2003, 299:256-259.
  • 4Ramirez A, Heimbach A, Grundemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet, 2006, 38:1184-1191.
  • 5Lucking CB, Durr A, Bonifati V, et al. Associalion between early onset Parkinson' s disease and mutation in the Parkin gene. N Engl J Med,2000,342: 1560-1567.
  • 6Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early onset Parkinsonism. Ann Neurol, 2004,56 : 424-427.
  • 7Atsumi M, Li Y, Tomiyama H, et al. A 62 year-old woman with early onset Parkinson's disease associated with the PINK1 gene deletion. Rinsho Shinkeigaku, 2006, 46: 199-202.
  • 8Marongiu R, Brancati F, Antonini A, et al. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.Hum Mutat,2007.28:98.
  • 9Hedrich K, Djarmati A, Schafer N, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology, 2004, 62:389-394.
  • 10Hedrich K, Eskelson C, Wihnot B,et al. Distribution,type,and origin of parkin mutations: review and case studies. Mov Disord, 2004,19:1146-1157.

共引文献5

检验医学与临床
2014年 第20期

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