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血友病A基因治疗的研究进展 被引量:3

Research advances on gene therapy for hemophilia A
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摘要 血友病(hemophilia)是凝血因子缺乏导致的一类遗传性出血性疾病,包括血友病A(HA)和血友病B(HB).HA表现为凝血因子Ⅷ(FⅧ)缺乏,约占全部血友病的80%,是由位于Ⅹ染色体上的FⅧ(F8)基因突变导致FⅧ缺乏或功能缺陷而引起[1].HB表现为凝血因子Ⅸ(FⅨ)缺乏,约占全部血友病患者的20%,由位于Ⅹ染色体上的FⅨ(F9)基因突变引起.
出处 《中华血液学杂志》 CAS CSCD 北大核心 2015年第7期620-625,共6页 Chinese Journal of Hematology
基金 国家重点基础研究发展计划(973)项目(2015CB964902) 国家自然科学基金创新研究群体(81421002) 协和青年科研基金(33320140065)
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  • 1Bolton-Maggs PH, Pasi KJ. Haemophilias A and B [J]. Lancet, 2003, 361 (9371): 1801-1809.
  • 2血友病诊断与治疗中国专家共识(2013年版)[J].中华血液学杂志,2013,34(5):461-463. 被引量:117
  • 3Roth DA, Tawa NE Jr, O' Brien JM, et al. Nonviral transfer of the gene encoding coagulation factor ~ in patients with severe hemophilia A[J]. N Engl J Med, 2001, 344(23):1735-1742.
  • 4Powell JS, Ragni MV, White GC 2nd, et al. Phase 1 trial of FⅧ gene transfer for severe hemophilia A using a retroviral construct administered by peripheral intravenous infusion [J]. Blood, 2003, 102 (6) :2038-2045.
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  • 6Herzog RW, Hagstrom JN, Kung SH, et al. Stable gene transfer and expression of human blood coagulation factor Ⅸ after intramuscular injection of recombinant adeno-associated virus [J]. Proc Natl Acad Sci U S A, 1997, 94( 11 ):5804-5809.
  • 7Herzog RW, Yang EY, Couto LB, et al. Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor Ⅸ mediated by adeno-associated viral vector [J]. Nat Med, 1999, 5(1): 56-63.
  • 8Kay MA, Manno CS, Ragni MV, et al. Evidence for gene transfer and expression of factor Ⅸ in haemophilia B patients treated with an AAV vector [J]. Nat Genet, 2000, 24 (3): 257- 261.
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  • 10Wang L, Nichols TC, Read MS, et al. Sustained expression of therapeutic level of factor Ⅸ in hemophilia B dogs by AAV- mediated gene therapy in liver [ J ]. Mol Ther, 2000, 1 (2): 154-158.

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