Department of Obstetrics and Gynecology, Cumhuriyet University School of Medicine, Sivas, Turkey.
Am J Reprod Immunol. 2010 Feb;63(2):126-36. doi: 10.1111/j.1600-0897.2009.00770.x. Epub 2009 Nov 10.
Recurrent pregnancy loss (RPL) is a heterogeneous disorder. The contribution of specific thrombophilic genes to the pathophysiology of RPL has remained controversial. We evaluated the prevalences of 12 thrombophilic gene mutations among homogenous Caucasian couples with RPL and fertiles.
of study This was a prospective case-control study evaluating 272 women with RPL and 152 of their male partners, and a control group of 56 fertile couples. We investigated mutations including FV Leiden, factor V H1299R, factor II prothrombin G20210A, F XIII V34L, beta-fibrinogen -455G>A, plasminogen activator inhibitor-1, GPIIIa L33P (HPA-1 a/b L33P), MTHFR C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E.
Overall, heterozygous mutations of FV Leiden, FXIII V34L, GPIIIa L33P, Apo E4, and prothrombin G20210A and homozygous mutations of PAI-1and MTHFR C677T were associated with RPL. There was no meaningful association between RPL and other studied genes.
In contrast to the other mutations and polymorphisms, FV Leiden, FXIII V34L, GPIIIa L33P, Apo E, prothrombin G20210A, PAI-1 and MTHFR C677T gene mutations may help to identify the couples at risk for recurrent pregnancy loss.
复发性流产（RPL）是一种异质性疾病。特定的血栓形成基因对 RPL 病理生理学的贡献仍存在争议。我们评估了同种高加索 RPL 夫妇和生育能力正常夫妇中 12 个血栓形成基因突变的流行率。
这是一项前瞻性病例对照研究，评估了 272 名 RPL 女性及其 152 名男性伴侣，以及 56 对生育能力正常的夫妇对照组。我们研究了包括 FV Leiden、因子 V H1299R、因子 II 凝血酶原 G20210A、F XIII V34L、β-纤维蛋白原-455G>A、纤溶酶原激活物抑制剂-1、GPIIIa L33P（HPA-1a/b L33P）、MTHFR C677T、MTHFR A1298C、ACE I/D、Apo B R3500Q 和 Apo E 在内的突变。
总体而言，FV Leiden、FXIII V34L、GPIIIa L33P、Apo E4 和凝血酶原 G20210A 的杂合突变以及 PAI-1 和 MTHFR C677T 的纯合突变与 RPL 相关。其他研究基因与 RPL 之间没有有意义的关联。
与其他突变和多态性不同，FV Leiden、FXIII V34L、GPIIIa L33P、Apo E、凝血酶原 G20210A、PAI-1 和 MTHFR C677T 基因突变可能有助于识别有复发性妊娠丢失风险的夫妇。
