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河南汉族深静脉血栓患者胱硫醚β-合成酶基因844ins68多态性检测 被引量：1

Detection of cystathionine β-synthase gene 844ins68 polymorphism in Henan Han deep venous thrombosis patients
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摘要 目的探讨胱硫醚β-合成酶(CBS)基因844ins68多态性与河南汉族人群深静脉血栓(DVT)形成的关系。方法运用PCR方法,对103例河南汉族DVT患者和250例健康对照进行CBS基因844ins68多态性检测,并进行基因型及等位基因频率分析。结果河南汉族人群CBS844ins68共存在2个等位基因(D和I)和3种基因型(D/D,I/I和I/D)。DVT组与对照组相比,各基因型频率与等位基因频率差异均无统计学意义(P>0.05)。结论CBS基因844ins68多态尚不能作为河南汉族人群DVT发病的遗传风险因子。 Aim： To explore the relationship between cystathionine β-synthase（CBS） gene 844ins68 polymorphism and deep venous thrombosis（DVT） in Henan Han population. Methods： CBS gene 844ins68 polymorphism in 103 samples of DVT and 250 samples of healthy control from Henan Han population was detected using PCR. Results： There were two alleles（ D and I） and 3 genotypes（ D/D,I/I and I/D） , and there were no significant differences in the frequencies of alleles or genotypes of CBS 844ins68 between the 2 groups. Conclusion ： CBS 844ins68 polymorphism may have no association with DVT in Henan Han population.
作者 贺颖 于海东 连建华 齐华 郑红 董子明
机构地区 郑州大学基础医学院细胞生物学与医学遗传学教研室 郑州大学基础医学院病理学与病理生理学教研室郑州 郑州大学基础医学院病理学与病理生理学教研室
出处 《郑州大学学报（医学版）》 CAS 北大核心 2007年第3期424-426,共3页 Journal of Zhengzhou University(Medical Sciences)
基金 河南省高校杰出人才创新工程基金资助2005KYCX020 河南省杰出青年科学基金资助0612001300 河南省科技攻关计划项目资助0624410049 河南省骨干教师基金资助
关键词 深静脉血栓 胱硫醚Β-合成酶 基因多态性 河南 汉族 deep venous thrombosis cystathionine β-synthase gene polymorphlsm Henan province Han population
分类号 R593.2 [医药卫生—内科学]
  • 相关文献

参考文献8

  • 1Tsai MY,Yang F,Bignell M,et al.Relation between plasma homocysteine concentration,the 844ins68 variant of the cystathionineβ-synthase gene,and pyridoxal-5'-phosphate concentration[J].Mol Genet Metab,1999,67 (4):352
  • 2Tsai MY,Bignell M,Yang F,et al.Polygenic influence on plasma homocysteine:association of two prevalent mutations,the 844ins68 of cystathionine β-synthase and A (2756) G of methionine synthase,with lowered plasma homocysteine levels[J].Atherosclerosis,2000,149 (1):131
  • 3戴崇文,张广森.缺血性心、脑血管疾病患者同型半胱氨酸代谢相关酶基因突变频度的研究[J].中华血液学杂志,2001,22(9):484-487. 被引量：56
  • 4陈卓,单可人,齐晓岚,谢渊,张婷,马骄,吴昌学,李毅,赵艳,肖雁,任锡麟.贵州西江苗族、三都水族胱硫醚合酶844 ins68位点的研究[J].贵阳医学院学报,2005,30(5):403-405. 被引量：1
  • 5Pepe G,Vanegas OC,Rickards O,et al.World distribution of the T833C/844INS68 CBS in cis double mutation:a reliable anthropological marker[J].Hum Genet,1999,104(2):126
  • 6Tsai MY,Bignell M,Schwichtenbeg K,et al.High prevalence of a mutation in the cystathionine β-synthase gene[J].Am J Hum Genet,1996,59(6):1 262
  • 7Gaustades M,Rudiger N,Rasmussen K,et al.Intermediate and severe hyper homocysteinemia with thrombosis:a study of genetic determinants[J].Thromb Haemost,2000,83 (4):554
  • 8Tsai MY,Welge BG,Hanson NQ,et al.Genetic cause of mild hyperhomocysteinemia in patients with premature occlusive coronary artery disease[J].Atherosclerosis,1999,143 (1):163

二级参考文献16

  • 1王钟翰.中国民族史[M].北京:中国社会科学出版社,2000.8-22.
  • 2贵州省地方志编纂委员会.贵州省志民族志[M].贵阳:贵州民族出版社,2002.14-23,559-563.
  • 3Boers GHJ,Smals AGH,TrijbelsJMF,et al.Hetferozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease[J].N EnglJMed,1985,313:709-715.
  • 4Clarke R,Daly L,Robinson K,et al.Hyperhomocysteinemia:an independent risk factor for vascular disease[J].N EnglJMed,1991,324:1 149-1 155.
  • 5Den Heijer M,Koster T,Blom HJ,et al.Hyperhomocysteinemia as a risk factor for deep-vein thrombosis[J].N EnglJMed,1996,334:759-762.
  • 6Ramsbottom D,ScottJM,Molloy A,et al.Are common mutations of cystathionine β-synthase involved in the aetiology of neural tube defects[J].Clin Genet,1997,51:39-42.
  • 7Jan P Kraus,Jana Oliveriusova,Jitka Sokolova,et al.The human cystathionineβ-synthase(CBS)gene:complete sequence,alternative splicing,and polymorphisms[J].Genomics,1998,52:312-324.
  • 8Sbastio G,Sperandeo MP,Panico M,et al.The molecular basis of homocystinuria due to cystathionine β-synthase deficiency in Italian families,and report of four novel mutations[J].AmJHum Genet,1995,56:1 324-1 333.
  • 9Tsai MY,Bignell M,Schwichtenberg K,et al.High prevalence of a mutation in the cystathionine β-synthase gene[J].AmJHum Genet,1996,59:1 262-1 267.
  • 10Kluijtmans LAJ,Boers GHJ,Trijbels FJM,et al.A common 844INS68 insertion variant in the cystathionine β-synthase gene[J].Biochem Mol Med,1997,62:23-25.

共引文献55

同被引文献6

  • 1Cattaneo M.Hyperhomocysteinemia,Atherosclerosis and Thrombosis[J].Thromb Haemost,1999,81 (2):165
  • 2Kim YJ,Williamson RA,Murray JC,et al.Genetic susceptibility to preclampsia:roles of cytosineto-thymine substitution at nucleotide 677 of the gene for methylenetrahydrofolate reductase,68-base pair insertion at nucleotide 844 of the gene for cystathionine beta-synthase,and factor Ⅴ Leiden mutation[J].Am J Obstet Gynecol,2001,184(6):1 211
  • 3Robert K,Chasse JF,Santiard-Baron D,et al.Altered gene expression in liver from a murine model of hyperhomocysteinemia[J].J Biol Chem,2003,278(34):31 504
  • 4Pepe G,Vanegas OC,Rickards O,et al.World distribution of the T833C/844INS68 CBS in cis double mutation:a reliable anthropological marker[J].Hum Genet,1999,104(2):126
  • 5Tsai MY,Yang F,Bignell M,et al.Relation between plasma homocysteine concentration,the 844ins68 variant of the cystathionine β-synthase gene,and pyridoxal-5'-phosphate concentration[J].Mol Genet Metab,1999,67 (4):352
  • 6戴崇文,张广森.缺血性心、脑血管疾病患者同型半胱氨酸代谢相关酶基因突变频度的研究[J].中华血液学杂志,2001,22(9):484-487. 被引量：56

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郑州大学学报（医学版）
2007年 第3期

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