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Recurrent pregnancy loss, plasminogen activator inhibitor-1 (-675) 4G/5G polymorphism and antiphospholipid antibodies in Czech women.反复性流产、纤溶酶原激活物抑制剂-1（-675）4G/5G 多态性与抗磷脂抗体在捷克妇女中的相关性。
Am J Reprod Immunol. 2013 Jul;70(1):54-8. doi: 10.1111/aji.12099. Epub 2013 Feb 27.
2
Analysis of plasminogen activator inhibitor-1, integrin beta3, beta fibrinogen, and methylenetetrahydrofolate reductase polymorphisms in Iranian women with recurrent pregnancy loss.伊朗复发性流产女性纤溶酶原激活物抑制剂-1、整合素β3、β纤维蛋白原和亚甲基四氢叶酸还原酶多态性分析。
Am J Reprod Immunol. 2011 Aug;66(2):149-56. doi: 10.1111/j.1600-0897.2010.00974.x. Epub 2011 Jan 18.
3
The value of hysteroscopy in diagnosis of chronic endometritis in patients with unexplained recurrent spontaneous abortion.宫腔镜检查在不明原因复发性自然流产患者慢性子宫内膜炎诊断中的价值。
Eur J Obstet Gynecol Reprod Biol. 2011 Apr;155(2):217-20. doi: 10.1016/j.ejogrb.2010.12.010. Epub 2011 Jan 13.
4
A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss.一项前瞻性病例对照研究分析了土耳其复发性流产夫妇中 12 种血栓形成基因的突变。
Am J Reprod Immunol. 2010 Feb;63(2):126-36. doi: 10.1111/j.1600-0897.2009.00770.x. Epub 2009 Nov 10.
5
Are polymorphisms in the ACE and PAI-1 genes associated with recurrent spontaneous miscarriages?ACE 和 PAI-1 基因多态性与复发性自然流产有关吗？
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Recurrent first trimester pregnancy loss: revised definitions and novel causes.复发性早期妊娠丢失：修订定义和新的病因。
Curr Opin Endocrinol Diabetes Obes. 2009 Dec;16(6):446-50. doi: 10.1097/MED.0b013e3283327fc5.
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Recurrent pregnancy loss: etiology, diagnosis, and therapy.复发性流产：病因、诊断与治疗。
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[The connection between Arg353Gln polymorphism of coagulation factor VII and recurrent miscarriages].[凝血因子VII的Arg353Gln多态性与复发性流产之间的关联]
Ginekol Pol. 2009 Jan;80(1):8-13.
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Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis.复发性流产患者与深静脉血栓形成患者的血栓形成倾向基因突变比较。
Am J Reprod Immunol. 2008 Nov;60(5):426-31. doi: 10.1111/j.1600-0897.2008.00640.x.
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The paradoxical association between inherited factor VII deficiency and venous thrombosis.遗传性因子VII缺乏症与静脉血栓形成之间的矛盾关联。
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血栓形成倾向基因突变与复发性妊娠丢失的关系。

The association between thrombophilic gene mutations and recurrent pregnancy loss.

机构信息

Department of Cellular and Molecular Biology, Faculty of Science, Azarbaijan Shahid Madani University, Tabriz, Iran.

出版信息

J Assist Reprod Genet. 2013 Oct;30(10):1353-9. doi: 10.1007/s10815-013-0071-5. Epub 2013 Aug 29.

DOI:10.1007/s10815-013-0071-5
PMID:23989998
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3824849/
Abstract

PURPOSE

To determine whether the Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), ACE (intron 16 I/D), Factor VII (Gln353Arg), Factor XIII (Val34Leu), β-fibrinogen (-455G/A), Glycoprotein Ia (807C/T), tPA (intron 8 D/I) gene mutations could be risk factors for recurrent pregnancy loss (RPL).

METHODS

Genotyping of thrombophilic gene mutations were carried out by amplification Refractory Mutation System-PCR (ARMS-PCR) method after DNA extraction.

RESULTS

We found that the mutant allele frequencies of Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), Factor XIII (Val34Leu) and β-fibrinogen (-455G/A) were more seen in the case group compared with the healthy control; However, the difference between the two group is not statistically significant (p > 0.05). Whilst the mutant allele frequencies of other studied genes were lower in the case in comparison to the fertile control women (p > 0.05).

CONCLUSION

Taken together, our data has shown that the prevalence of thrombophilic gene mutations was similar in women with RPL and healthy controls. Therefore, it appears that further studies on large-scale population and other genetic variants will be needed to conclusively find candidate genes for RPL unknown etiology in the future.

摘要

目的

确定凝血因子 V（1691G/A）、凝血因子 V HR2（4070A/G）、凝血酶原（20210G/A）、纤溶酶原激活物抑制剂-1（-675I/D、5G/4G）、血管紧张素转换酶（内含子 16 I/D）、凝血因子 VII（Gln353Arg）、凝血因子 XIII（Val34Leu）、β-纤维蛋白原（-455G/A）、糖蛋白 Ia（807C/T）、组织型纤溶酶原激活物（tPA）（内含子 8 D/I）基因突变是否为复发性妊娠丢失（RPL）的危险因素。

方法

通过聚合酶链反应-扩增受阻突变系统（PCR-ARMS）方法提取 DNA 后，对易栓症基因突变进行基因分型。

结果

我们发现，与健康对照组相比，病例组凝血因子 V（1691G/A）、凝血因子 V HR2（4070A/G）、凝血酶原（20210G/A）、纤溶酶原激活物抑制剂-1（-675I/D、5G/4G）、凝血因子 XIII（Val34Leu）和β-纤维蛋白原（-455G/A）的突变等位基因频率更高；然而，两组之间的差异无统计学意义（p＞0.05）。而其他研究基因的突变等位基因频率在病例组中低于生育对照组（p＞0.05）。

结论

综上所述，我们的数据表明，RPL 患者与健康对照组的易栓症基因突变发生率相似。因此，未来可能需要对更大规模的人群和其他遗传变异进行进一步研究，以确定 RPL 未知病因的候选基因。