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不同检测方法检测比较ABCA1基因多态性与脑梗死的关系 被引量：3

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摘要 目的探讨三种不同检测方法对ABCA1 R219K基因多态性与脑梗死关系的研究。方法构建ABCA1 R219K基因野生型和突变型不同型别模板;采用高分辨率溶解曲线HRM方法,TaqMan MGB荧光探针PCR法,以及多聚合酶链式反应-限制性片段长度多态性方法(PCR-RFLP),分别检测病例组和对照组中ABCA1 R219K基因多态性。结果成功构建ABCA1 R219K基因野生型及突变型质粒模板;HRM和PCR-RFLP分别检测病例组和对照组中ABCA1 R219K基因多态性,检测结果差异无统计学意义(P>0.05);TaqMan MGB荧光探针法与金标准PCR测序法一致。结论在脑梗死样本中ABCA1 R219K基因多态性检测中,TaqMan MGB荧光探针PCR法检测的准确性、特异性等优于HRM法和PCR-RFLP法,ABCA1 R219K基因多态性与脑梗死关系的具体作用机制还有待于进一步研究。
作者 蔡芬 宋治 陈皓 王英
机构地区 中南大学湘雅三医院神经内科 岳阳职业技术学院临床医学系
出处 《实用预防医学》 CAS 2014年第4期497-499,共3页 Practical Preventive Medicine
关键词 ATP结合盒转运子1(ABCA1) 基因多态性 脑梗死 HRM TAQMAN MGB探针法
分类号 R743.33 [医药卫生—神经病学与精神病学]
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参考文献8

  • 1Takagi S, Iwai N, Miyazaki S. Relationship between ABCA1 genetic variation and HDL cholesterol level in subjects with ischemic heart dis- eases in Japanese[J]. Thromb Haemost, 2002,88:369- 370.
  • 2Andrikovics H, Pongracz E, Kalina A. Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cere- brovascular and eaMiovascular diseases[J]. Cerebrovasc Dis, 2006,21 : 254 - 259.
  • 3Brousseau ME,Bodzioch M,Schaefer EJ. Common variants in the gene encoding ATP - binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease[J ]. Atherosclerosis, 2001, 154:607 - 611.
  • 4Cenarro A, Artieda M, Castillo S. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart dis- ease in familial hypercholesterolaemia[ J ]. J Med Genet, 2003,40 : 163 - 168.
  • 5薛偕华,黄赛娥,洪江从,吴加勇,林志诚,林高城.ABCA1基因与颈动脉粥样硬化伴动脉粥样硬化性脑梗死的相关性研究[J].中西医结合心脑血管病杂志,2012,10(5):574-576. 被引量：4
  • 6Fortini D, Ciammaruconi A, De Santis R, et al. Optimization of high- resolution melting analysis for low- cost and rapid screening of allelic variants of BaciZlus anthracis by multiple - locus variable - number tandem repeat analysis[J]. Clin Chem,2007,53(7) :1377 - 1389.
  • 7Martino A, Mancuso T, Rossi AM. Application of high - resolution melting to large- scale, high- throughput SNP genotyping: a com- parison with the TaclMan method [ J ]. J Biomol Screen, 2010, 15: 623 - 629.
  • 8Billard A, Laval V, Fillinger S, et al. The allele - specific probe and primer amplification assay, a new real - time PCR method for fine quantification of single- nucleotic/e polymorphisms in pooled DNA[J]. Appl Environ Microbiol, 2013,78(4) : 1063 - 1068.

二级参考文献18

  • 1周永昌 郭万学.超声医学[M]第3版[M].北京：科学技术文献出版社,1999.1042.
  • 2Sacco RL,Benson RT,Kargman DE,et al.High-density lipoprotein cholesterol and ischemic stroke in the elderly:The Northen Manhattan Stroke Study[J].JAMA,2001,285(21):2729-2735.
  • 3Bodzioch M,Orso E,Klucken J,et al.The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease[J].Nat Genet,1999,22(4):347-351.
  • 4Brooks-Wilson A,Marcil M,Clee SM,et al.Mutations in ABCA1 in Tangier disease and familial high-density lipoprotein deficiency[J].Nat Genet,1999,22(4):336-345.
  • 5Andrikovics H,Pongrácz E,Kalina (A),et al.Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases[J].Cerebrovasc Dis,2006,21(4):254-259.
  • 6Bertolini S,Pisciotta L,Di Scala L,et al.Genetic polymorphisms affecting the phenotypic expression of familial hyperchole-sterolemia[J].Atherosclerosis,2004,174(1):57-65.
  • 7Clee SM,Zwinderman AH,Engert JC,et al.Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease[J].Circulation,2001,103(9):1198-1205.
  • 8Evans D,Beil FU.The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary artery disease and hyperlipidemia[J].J Mol Med,2003,81(4):264-270.
  • 9Singaraja RR,Brunham LR,Visscher H,et al.Efflux and atherosclerosis:The clinical and biochemical impact of variations in the ABCA1 gene[J].Arterioscler Thromb Vasc Biol,2003,23(8):1322-1332.
  • 10Sandhofera A,Iglsederb B,Kasera S,et al.The influence of two variants in the adenosine triphosphate-binding cassette transporter 1 gene on plasma lipids and carotid atherosclerosis[J].Metabolism,2008,57(10):1398-1404.

共引文献3

同被引文献18

  • 1高秀丽,景奉香,杨剑波,赵建龙.单核苷酸多态性检测分析技术[J].遗传,2005,27(1):110-122. 被引量：30
  • 2王爱玲,余元勋,徐岩,陈森,程景林,吴继雄,张莉,刘萍.β纤维蛋白原基因455G/A多态性与急性心肌梗死的关系[J].安徽医科大学学报,2005,40(3):238-240. 被引量：4
  • 3各类脑血管疾病诊断要点[J].中华神经科杂志,1996,29(6):379-380. 被引量：33020
  • 4史清海,伏建峰,路西春,许琴,冉继华,刘正祥.酒精灌胃大鼠血浆中乙醇浓度变化[J].实用预防医学,2006,13(5):1322-1323. 被引量：9
  • 5Doggen CJ, Bertina RM, Cats VM, et al. Fibrinogen polymorphisms are not associated with the risk of myocardial infarction[J]. Br J Haematol, 2000, 110:935 938.
  • 6Leander K, Wiman B, Hallqvist J, et al. The G 455A polymor phism of the fibrinogen B 13 gene relates to plasma fibrinogen in male cases, but does not interact with environmental factors in causing myo- cardial infarction in either men or women[J].J Int Med, 2002, 252: 332 - 341.
  • 7Smith GD, Harbord R, Milton J, et al. Does elevated plasma fibrinogen increase the risk of coronary heart disease: evidence from a meta- anal- ysis of genetic association studies [J].Arterioscler Thromb Vasc Bio, 2005, 25:2228 - 2233.
  • 8Tybjaerg- Hansen A, Agerholm - Larsen B, Humphries SE, et al. A common mutation (G - 455~A) in the beta - fibrinogen promoter is an independent predictor of plasma fibrinogen, but not of ischemic heartdisease. A study of 9, 127 individuals based on the Copenhagen City Heart Study[J] .J Clin Invest, 1997, 99:3034- 3039.
  • 9Folsom AR, Aleksic N, Ahn C. Beta - fibrinogen gene 455G/A poly- morphism and coronary heart disease incidence: the Atherosclerosis Risk in Communities (ARIC) Study[J] .Ann Epidemiol, 2001, 11 : 166 170.
  • 10傅晶,杨亦荣,倪晓洁,潘晓东,郑建建,郑少玲,林刃舆,蔡明,陈必成.代谢酶基因单核苷酸多态性两对引物-聚合酶链反应技术方法的建立及初步应用[J].中华流行病学杂志,2009,30(1):63-67. 被引量：2

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实用预防医学
2014年 第4期

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