Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations

Ozturk Ozdemir; Gonca Imir Yenicesu; Fatma SilanBinnur KoksalSinem AtikFiliz OzenMert GolAli Cetin

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Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations

机译：复发性流产和它的关系结合父母Thrombophilic基因突变

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Background and Aim: Recurrent pregnancy loss (RPL) is a heterogeneous disorder that has been associated with antiphospholipid syndrome and other prothrombotic parameters. We aimed to investigate the prevalence of 12 thrombophilic gene mutations in RPL couples in the current results. Method: In a total of 543 Turkish women with RPL and 327 of their male partners (870 individuals with RPL), and a control group of 106 fertile couples (control) were analyzed for factor V leiden (FVL), factor V H1299R, factor II prothrombin G20210A, FXIII V34L, b-fibrinogen - 455G > A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E genes. Results: The overall, heterozygous and/or homozygous point mutations in FVL - FVR2, ApoE2, PAI-1, MTHFR C677T - A1298C, and ACE genes were associated with RPL. There was no meaningful association between RPL and other studied genes. Conclusion: The homozygosity of 4G in PAI-1 and MTHFR C677T genes in women with RPL, and heterozygosity of FVL, FVR2, ACE, and ApoE2 genes in both parents play crucial role in RPL and should be considered as a risk factor in RPL. Current results showed that RPL is related to combined parental (not only maternal) thrombophilic gene mutations.

机译：背景和目的:复发性流产(RPL)是一种异构的紊乱,是吗与antiphospholipid综合症和有关其他凝血参数。12 thrombophilic调查的患病率基因突变在RPL夫妇在当前结果。与RPL男性伴侣(870和327年个人RPL)和对照组106人有生育能力的夫妇(控制)进行了分析因子V莱顿(FVL)因子V H1299R因子II455 g > A,纤溶酶原激活物inhibitor-1methylenetetrahydrofolate还原酶(MTHFR), MTHFR C677T A1298C ACE I / D, Apo B R3500Q,Apo E基因。和/或纯合子的点突变在FVL - FVR2,ApoE2 PAI-1, MTHFR C677T A1298C, ACE基因与RPL有关。RPL和其他研究的基因之间的联系。结论:在PAI-1 4 g的纯合性MTHFR C677T基因在女性RPL,杂合性的FVL FVR2、ACE和ApoE2基因在父母双方在RPL和发挥至关重要的作用RPL应该被视为一个风险因素。目前的结果表明,RPL有关父母(不仅孕产妇)thrombophilic基因突变。

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来源
《Genetic testing and molecular biomarkers》 |2012年第4期|279-286|共8页
作者
Ozturk Ozdemir; Gonca Imir Yenicesu; Fatma SilanBinnur KoksalSinem AtikFiliz OzenMert GolAli Cetin;
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作者单位

Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey;

Departments of Obstetric and Gynecology, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey;

Departments of Medical Genetics Faculty of Medicine, Cumhuriyet University, Sivas, TurkeyDepartment of Obstetric and Gynecology, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey;

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原文格式 PDF
正文语种英语
中图分类 Q-028;
关键词
Gene Mutation; Plasminogen Activator Inhibitor 1; PregnancyApolipoprotein E2Prothrombin4G mobile communication;

机译：基因突变;纤溶酶原激活物抑制剂1;PregnancyApolipoprotein E2Prothrombin4G移动沟通;

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Recurrent Pregnancy Loss and Its Relation to Combined Parental Thrombophilic Gene Mutations

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