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遗传性凝血因子V缺陷症研究进展 被引量：7

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摘要 凝血因子是凝血过程中重要的辅因子。除了凝血功能,F也通过辅助活化蛋白C下调活化因子间接参与生理性抗凝旁路途径。F的这一双重作用,使得F基因缺陷可能导致出血或血栓,形成两种完全相反的表型。本文着重就F引起遗传性凝血因子缺陷症的分子发病机制及其与临床表型的关系作一综述。
作者 蔡晓红 王学锋 王鸿利
机构地区 上海第二医科大学附属瑞金医院临床输血科上海血液学研究所
出处 《国际输血及血液学杂志》 CAS 2006年第1期13-16,共4页 International Journal of Blood Transfusion and Hematology
关键词 凝血因子Ⅴ 遗传性凝血因子Ⅴ缺陷症 发病机制
分类号 R55 [医药卫生—血液循环系统疾病]
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参考文献29

  • 1Christella M, Thomassen LG, Castoldi E, e* al. Endogenous factor V synthesis in megakaryocytes contributes negligibly to the platelet factor V pool. Haematologiea, 2003,88 : 1150-1156.
  • 2Duga S, Montefusco MC, Asselta R, et al. R2074C missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. Blood, 2003, 101:173-177.
  • 3Nicolaes G A, Villoutreix B O , Dahlback B. Partial glyeosylation of Ash2181 in human factor V as a cause of molecular and funetional heterogeneity. Modulation of glycosylation efficiency by mutagenesls of the eonsensussequenee for N-linked glycosylation. Biochemistry, 1999,38:13584-13591.
  • 4Srivastava A, Quinn-Allen MA, Kim SW, et al, Soluble phosphatidylserine binds to a single identified site in the C2 domain of human factor V a, Biochemistry, 2001,40(28):8246-8255.
  • 5Majumder R, Quinn-Allen MA, Kane WH. The phosphatidylserine binding site of the factor V a C2 domain accounts for membrane binding but does not contribute to the assembly or activity of a human factor X a-factor V a complex.Biochemistry, 2005,44(2) :711-718.
  • 6Dahlback B. Activated protein C resistance and thrombosis:molecular mechanisms of hypercoagulable state due to F V RS06Q mutation. Semin Thromb Hemost, 1999,25 : 273-289.
  • 7Mann K G, Kalafatis M, Factor V: a combination of Dr. Jekyll and Mr. Hyde. Blood,2003, 101:20-30.
  • 8Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated peotien C. Nature, 1994, 369:64-67.
  • 9Dahlback B. Anticoagulant factor V and thrombosis risk. Blood,2004,103(11) :3995-3995.
  • 10Nicolaes GA. Dahlback B. Factor V and Thrombotic Disease Deacription of a Janus-Faced Protein Arterioscler. Thromb Vasc Biol,2002,22:530-538.

二级参考文献19

  • 1Jenny RJ, Pittman DD, Toole JJ. et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci U S A,1987,4:4846-4850.
  • 2van Wijk R, Nieuwenhuis K, van den Berg M, et al. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood,2001,98:358-367.
  • 3Guasch JF, Cannegieter S, Reitsma PH. et al. Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. Br J Haematol,1998,101:32-39.
  • 4Guasch JF, Lensen RP, Bertina RM.Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance. Thromb Haemost,1997,77:252-257.
  • 5Murray JM, Rand MD, Egan JO. et al. Factor V New Brunswick: Ala221-to-Val substitution results in reduced cofactor activity.Blood,1995,86:1820-1827.
  • 6Castoldi E, Kalafatis M, Lunghi B. et al. Molecular bases of pseudo-homozygous APC resistance: the compound heterozygosity for FV R506Q and a FV null mutation results in the exclusive presence of FV Leiden molecules in plasma. Thromb Haemost,1998,80:403-406.
  • 7Mirochnik O, Halim-Kertanegara N, Henniker AJ, et al. A novel factor V null mutation at Arg 506 causes a false positive factor V Leiden result. Thromb Haemost,1999,82:1198-1199.
  • 8Zehnder JL, Hiraki DD, Jones CD, et al. Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. Thromb Haemost,1999,82:1097-1099.
  • 9Castoldi E, Simioni P, Kalafatis M, et al. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. Blood, 2000,96:1443-1448.
  • 10Montefusco MC, Duga S, Asselta R, et al. A novel two base pair deletion in the factor V gene associated with severe factor V deficiency. Br J Haematol,2000,111:1240-1246.

共引文献15

同被引文献45

引证文献7

二级引证文献14

国际输血及血液学杂志
2006年 第1期

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