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

广西重型β-地中海贫血BCL11A基因多态性与胎儿血红蛋白的相关性研究 被引量：2

下载PDF
导出
摘要 目的:探讨我国广西重型β-地中海贫血(地贫)BCL11A基因rs11886868、rs1427407及rs766432多态性与其胎儿血红蛋白(HbF)水平的相关关系。方法:应用PCR扩增、PCR-RFLP及DNA测序技术,对我国广西重型β-地贫患者BCL11A基因3个位点多态性检测并统计基因型频率,分析上述位点与正常对照者分布频率的差异,并分析重型β-地贫患者三位点多态性与HbF水平的相关关系。结果:重型β-地贫组BCL11A基因rs1427407和rs766432位点突变基因的频率明显高于正常对照组(均P<0.001),rs11886868位点各基因型分布两组比较差异无统计学意义(P>0.05)。在重型β-地贫患者中,基因型分布与3个多态性位点有较大关联(P<0.001,Cp=0.497)。rs11886868位点基因型与HbF水平无相关性(P>0.05),rs1427407和rs766432与HbF水平有关(rp=0.931,P<0.001;rp=0.915,P<0.001)。结论:重型β-地贫患者BCL11A基因基因多态性与HbF水平有关,rs1427407和rs766432位点基因突变可能提高HbF水平。
作者 潘婷 程鹏 赖永榕 刘容容
机构地区 广西医科大学第一附属医院血液科
出处 《广西医科大学学报》 CAS 2012年第3期374-378,共5页 Journal of Guangxi Medical University
关键词 重型Β-地中海贫血 胎儿血红蛋白 BCL11A基因 基因多态性
分类号 R596 [医药卫生—内科学]
  • 相关文献

参考文献4

  • 1Garner C, Tatu T, Reittie JE, et al. Genetic influences on F cells and other hematologic variables: a twin heri- tability study[J]. Blood,2000,95(1) :342-346.
  • 2Boyer SH,Belding TK, Margolet L,et al. Fetal hemo- globin restriction to a few erythrocytes (F cells) in nor- mal humanadults[J]. Science, 1975,188 (4 186):361- 363.
  • 3Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers [J]. Blood,2009,114(18):3 935-3 937.
  • 4严卫丽.复杂疾病全基因组关联研究进展——研究设计和遗传标记[J].遗传,2008,30(4):400-406. 被引量：37

二级参考文献43

  • 1Klein RJ,Zeiss C,Chew EY,Tsai JY,Sackler RS,Haynes C,Henning AK,Sangiovanni YP,Mane SM,Mayne ST,Bracken MB,Ferris FL,Ott J,Barnstable C,Hoh J.Complement factor h polymorphism in age-related macular degeneration.Science,2005.308(5720):385-389.
  • 2Herbert A,Gerry NP,McQueen MB,Heid IM,Pfeufer A,Illig T,Wichmann HE,Meitinger T.Hunter D,Hu FB,Colditz G,Hinney A,Hebebrand J,Koberwitz K,Zhu X,Cooper R,Ardlie K,Lyon H,Hirschhorn YN,Laird NM,Lenburg ME,Lange C,Christman ME A common genetic variant is associated with adult and childhood obesity.Science,2006,312(5771):279-283.
  • 3Rosskopf D,Bornhorst A,Rimmbach C,Schwahn C,Kayser A,Kruger A,Tesmann G,Geissler I,Kroemer HK,Volzke H.Comment on "a common genetic variant is associated with adult and childhood obesity".Science,2007,315(5809):187.
  • 4Frayling TM,Timpson NJ,Weedon MN,Zeggini E,Freathy RM,Lindgren CM,Perry JR,Elliott KS,Lango H,Rayner NW,Shields B,Harries LW,Barrett JC,Ellard S,Groves CJ,Knight B,Patch AM,Ness AR,Ebrahim S,Lawlor DA,Ring SM,Ben-Shlomo Y,Jarvelin MR,Soyio U,Bennett AJ,Melzer D,Ferrucci L,Loos RJ,Barroso I,Wareham NJ,Karpe F,Owen KR,Cardon LR,Walker M,Hitman GA,Palmer CN,Doney AS,Morris AD,Smith GD,Hattersley AT,McCarthy MI.A common variant in the fro gene is associated with body mass index and predisposes to childhood and adult obesity.Science,2007,316(5826):889-894.
  • 5Saxena R,Voight BF,Lyssenko V,Burtt NP.de Bakker P I,Chen H,Roix JJ,Kathiresan S,Hirschhorn JN,Daly MJ,Hughes TE,Groop L,Altshuler D,Almgren P,Horez JC,Meyer J,Ardlie K,Bengtsson Bostrom K,Isomaa B,Lettre G,Lindblad U,Lyon HN,Melander O,Newton-Cheh C,Nilsson P,Orho-Mdander M,Rastam L,Speliotes EK,Taskinen MR,Tuomi T,Guiducci C,Berglund A,Carlson J,Gianniny L,Hackett R,Hall L,Holmkvist J,Laurila E,Sjogren M,Sterner M,Surti A,Svensson M,Svensson M,Tewhey R,Blumenstiel B,Parkin M,Defelice M,Barry R,Brodeur W,Camarata J,Chia N,Fava M,Gibbons J,Handsaker B,Healy C,Nguyen K,Gates C,Sougnez C,Gage D,Nizzari M,Gabriel SB,Chirn GW,MaQ,Parikh H,Richardson D,Rieke D,Purcell S.Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.Science,2007,316(5829):1331-1336.
  • 6Ubeda M,Rukstalis JM,Habener JF.Inhibition of cyclin-dependent kinase 5 activity protects pancreatic beta cells from glucotoxicity.J Biol Chem,2006,281(39):28858-28864.
  • 7Foley AC,Mercola M.Heart induction by wnt antagonists depends on the homeodomain transcription factor hex.Genes Dev,2005,19(3):387-396.
  • 8Scott LJ,Mohlke KL,Bonnycastle LL,WiHer CJ,Li Y,Duren WL,Erdos MR,Stringham HM,Chines PS,Jackson AU,Prokunina-Olsson L,Ding CJ,Swift AJ,Narisu N,Hu T,Pruim R,Xiao R,Li XY,Conneely KN,Riebow NL,Sprau AG,Tong M,White PP,Hetrick KN,Barnhart MW,Bark CW,Goldstein JL,Watkins L,Xiang F.Saramies J,Buchanan TA,Watanabe RM,Vale TT.Kinnunen L,Abecasis GR,Pugh EW.Doheny KF,Bergman RN,Tuomilehto J,Collins FS,Boehnke M.A genome-wide association study of type 2 diabetes in finns detects multiple susceptibility variants.Science,2007,316(5829):1341-1345.
  • 9Samani NJ,Erdmann J.Hall AS,Hengstenberg C,Mangino M,Mayer B,Dixon RJ,Meitinger T.Braund P,Wichmann HE,Barrett JH,Konig IR,Stevens SE,Szymczak S,Tregouet DA,Iles MM,Pahlke F,Pollard H,Lieb W,Cambien F,Fischer M,Ouwehand W,Blankenberg S,Balmforth AJ,Baessler A,Ball SG,Strom TM,Braenne I,Gieger C,Deloukas P,Tobin MD,Ziegler A,Thompson JR,Schunkert H,Genomewide association analysis of coronary artery disease.N Engl J Med,2007,357(5):443-453.
  • 10Newton-Cheh C,Hirschhorn JN.Genetic association studies of complex traits:Design and analysis issues.Mutat Res,2005,573(1-2):54-69.

共引文献36

同被引文献17

引证文献2

二级引证文献1

广西医科大学学报
2012年 第3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