CAJ | 학술논문

目的评价α-半乳糖苷酶A(Gla)缺乏与凝血因子V(FV)Leiden(FVL)在体内对血栓形成的影响.方法建立Gla与FVL基因复合突变小鼠,并分析其器官组织纤维蛋白沉积和血栓形成情况.结果在FVL存在情况下,野生型小鼠组织器官纤维蛋白沉积[Gla+/0 FV Q/Q,(0.08±0.05)%]较Gla缺乏型[Gla-/0 FV Q/Q,(0.24±0.07)%)]显著降低(P＜0.01),Gla缺乏型纯合子小鼠组织器官纤维蛋白沉积[Gla-/-FV Q/Q,(0.32±0.03)%)]较Gla野生型[Gla+/+FV Q/Q,(0.06±0.01)%)]显著增加(P＜0.05);同时Gla缺乏型小鼠(Gla-/-FV Q/Q和Gla-/0 FV Q/Q)血栓数目[(1.9±0.7)个]亦显著高于Gla野生型小鼠(Gla+/+FV Q/Q和Gla+/0 FV Q/Q)的血栓数目[(0.3±0.1)个](P＜0.05).结论 Gla缺乏加重FVL突变小鼠的组织纤维蛋白沉积和血栓形成,提示Cla缺乏可能是重要的增强FVL患者血栓形成的遗传因素,临床上FVL患者出现早发和严重的血栓疾病可能合并其他遗传性血栓相关的基因缺陷.
목적 평개α-반유당감매A(Gla)결핍여응혈인자V(FV)Leiden(FVL)재체내대혈전형성적영향.방법 건립Gla여FVL기인복합돌변소서,병분석기기관조직섬유단백침적화혈전형성정황.결과 재FVL존재정황하,야생형소서조직기관섬유단백침적[Gla+/0 FV Q/Q,(0.08±0.05)%]교Gla결핍형[Gla-/0 FV Q/Q,(0.24±0.07)%)]현저강저(P＜0.01),Gla결핍형순합자소서조직기관섬유단백침적[Gla-/-FV Q/Q,(0.32±0.03)%)]교Gla야생형[Gla+/+FV Q/Q,(0.06±0.01)%)]현저증가(P＜0.05);동시Gla결핍형소서(Gla-/-FV Q/Q화Gla-/0 FV Q/Q)혈전수목[(1.9±0.7)개]역현저고우Gla야생형소서(Gla+/+FV Q/Q화Gla+/0 FV Q/Q)적혈전수목[(0.3±0.1)개](P＜0.05).결론 Gla결핍가중FVL돌변소서적조직섬유단백침적화혈전형성,제시Cla결핍가능시중요적증강FVL환자혈전형성적유전인소,림상상FVL환자출현조발화엄중적혈전질병가능합병기타유전성혈전상관적기인결함.
Objective To evaluate the effect of q-galaetosidase A(Gla)deficiency on FV Leiden (FVL)associated thrombosis in vivo.Metlaods To generate the mice carrying mutations in Gla and F V L and analyze the tissue fibrin deposition in organs and thrombosis.Results in the presence of F V L,Gla deficiency greatly increased tissue fibrin deposition compared with that in wild-type[Gla-/0 FV Q/Q vs.Gla+/0 FV Q/Q=(0.24±0.07)% vs.(0.086±0.049)%,P＜0.0001;Gla-/-FV Q/Q vs.Gla+/+ FV Q/Q=(0.32±0.03)% vs.(0.06±0.005)%,P＜0.05].With Gla deficiency,the number of thrombi on organ sectiona in F V L mice was signifieantly increased[(Gla-/-FV Q/Q and Gla-/0 FV Q/Q) vs.(Gla+/+ FV Q/Q and Gla+/0 FV Q/Q)=1.9±0.7 vs.0.3±0.1,P＜0.05].Conclusions Gla deficieney could be an important genetic modifier for the enhaneed thrombosis associated with F V L.