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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。

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