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β-纤维蛋白原-455G/A基因多态性与Budd-Chiari综合征 被引量:1

The relationship between β fibrinogen gene-455G/A polymorphisms and Budd-Chiari syndrome
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摘要 目的 探讨 β 纤维蛋白原 (Fg) 4 5 5G/A基因多态性在影响Budd Chiari综合征 (BCS)患者血浆Fg水平中的作用以及其与BCS发病的关系。方法 经彩色多普勒超声检查和血管造影确诊的BCS患者 5 3例 ,健康对照组 10 5例。血浆Fg的测定应用酶反应法。采用酚 /氯仿抽提方法从白细胞中提取人基因组DNA ,运用PCR 限制性内切酶片段长度多态性技术检测 β Fg 4 5 5G/A基因多态性。结果 BCS患者组中 β Fg 4 5 5GA +AA基因型频率与健康对照组相比差异有显著性(P <0 0 5 ,OR =2 0 4 ,95 %CI:1 0 3~ 4 0 2 ) ;BCS患者组平均血浆Fg水平显著高于健康对照组 (P <0 0 1)。无论BCS患者或健康对照 ,A基因携带者血浆Fg水平比同组GG基因型者显著升高 (0 0 1<P <0 0 5 )。结论 BCS患者 β Fg 4 5 5GA +AA基因型频率较健康对照显著升高 ,与BCS患者血浆Fg水平升高以及血栓形成密切相关。 Objective To study the effect of th e -455G→A substitution on influencing fibrinogen levels and morbidity in patients with Budd-Chiari syndrome (BCS). Methods 53 patients with BCS diagnosed by color Doppler- ultrasound and venography and 105 healthy persons as control were observed. Assa y of plasma fibrinogen was performed by the method of enzymatic reaction. DNA wa s extracted from white cells using the phenol/chloroform method. β fibrinogen g ene was detected by polymerase chain reaction- restriction fragment length poly morphism techniques using thermostable Taq polymerase under conditions recommen ded by the manufacturer. Results The frequencies of -455GA+AA genotype w ere significantly increased in patients with BCS compared with normal controls ( P<0.05, OR=2.04, 95%CI: 1.03-4.02). There was a significant difference in plasma fibrinogen levels between BCS subjects and control subjects (P<0. 01). Either in patients with BCS or in healthy controls, the plasma fibrinogen levels was significantly increased seen in the subjects with -455A all eles (0.01<P<0.05).Conclusions β fibrinogen gene -455G/A polymorph ism is associated with increased plasma fibrinogen levels and may be an importan t risk factor in the pathogenesis of BCS.
出处 《中华内科杂志》 CAS CSCD 北大核心 2004年第10期753-755,共3页 Chinese Journal of Internal Medicine
关键词 β-纤维蛋白原-455G/A 基因多态性 BUDD-CHIARI综合征 测定 发病风险 Fibrinogen Genes Budd-Chiari syndrom e
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参考文献6

  • 1Deltenre P, Denninger MH, Hillaire S, et al. Factor V leiden related Budd-Chiari syndrome. Gut, 2001, 48: 264-268.
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  • 3Bucciarelli P, Franchi F, Alatri A, et al. Budd-Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene. Thromb Haemost, 1998, 79: 445-446.
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同被引文献4

  • 1Takayukl Iwaki, et al. Fibrinogen Stabilizes Placental - Maternal Attachment During Embryonic Development in the Mouse [ J]. American Journal of Pathology,2002,160( 3 ) : 1021 - 1034.
  • 2Parasnis H, Raje B, Hinduja IN. Relevance of plasma fibrinogen estimation in obstetric complications [ J ]. J Postgrad Med, 1992,38 (4) : 183.
  • 3Craig S. Kitchens, Amelia C. Cruz, and Jeffrey A. A Unique 7p/ 12q Chromosomal Abnormality Associated With Recurrent Abortion and Hypofibrinogenemia [ J ]. Blood, 1987,170 ( 4) : 921 - 925.
  • 4John CP , Barbara O' Brien. Early Pregnancy Loss [ J ]. Medicine Journal,2001,2( 11 ) :345 - 350.

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