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Inherited thrombophilia and recurrent pregnancy loss: a single-center case-control study in North-Western Algeria
Egyptian Journal of Medical Human Genetics Pub Date : 2020-08-17 , DOI: 10.1186/s43042-020-00077-1
Ilhem Nassour-Mokhtari , Bouchra Loukidi , Abdellatif Moussouni , Reda Bettioui , Riad Benhabib , Hafida Merzouk , Amaria Aouar , Katia Allal-Taouli

Recurrent pregnancy loss (RPL) is a common disorder that affects around 3 to 5% of pregnant women. It has different causes, and in about 50%, it is of unknown etiology. Thrombophilia might increase the risk of RPL by adversely affecting the normal placental vascular function. Our study aimed to determine the frequency of factor V Leiden (FVL) and prothrombin G20210A gene mutations in Algerian women with RPL and to correlate their presence with the occurrence of such health’s problem. A total of 80 women with previous fetal losses and 100 age-matched women with no history of fetal loss were recorded. Participants were tested for activated protein C resistance (APCR), protein C (PC), protein S (PS), and antithrombin (AT) deficiencies. The screening of FVL and prothrombin G20210A mutations was also done using a duplex polymerase chain reaction. APCR was detected in 6.25% of cases and was absent in controls (p = 0.011). PC and PS deficiencies were documented in 7.5% of patients. FVL was detected in 8.33% of patients and was absent in controls (p = 0.047). Prothrombin G20210A mutation was found in 8.33% of patients compared to 11.11% of controls (p = 0.631). A significant association of FVL mutation with the abortion which occurred in the second trimester was found (p = 0.001). There is a significant association between FVL mutation and RPL especially the loss occurring during the second trimester. No correlation was found regarding prothrombin G20210A mutation.

中文翻译:

遗传性血栓形成倾向和反复流产:阿尔及利亚西北部的单中心病例对照研究

复发性流产 (RPL) 是一种常见疾病,影响约 3% 至 5% 的孕妇。它有不同的原因,其中约 50% 的病因不明。血栓形成倾向可能通过对正常胎盘血管功能产生不利影响来增加 RPL 的风险。我们的研究旨在确定患有 RPL 的阿尔及利亚女性中因子 V Leiden (FVL) 和凝血酶原 G20210A 基因突变的频率,并将它们的存在与此类健康问题的发生联系起来。总共记录了 80 名以前有过流产史的女性和 100 名没有流产史的年龄匹配的女性。参与者接受了活化蛋白 C 抗性 (APCR)、蛋白 C (PC)、蛋白 S (PS) 和抗凝血酶 (AT) 缺陷的测试。FVL 和凝血酶原 G20210A 突变的筛选也使用双链聚合酶链反应进行。在 6.25% 的病例中检测到 APCR,而在对照组中不存在 (p = 0.011)。7.5% 的患者记录了 PC 和 PS 缺陷。在 8.33% 的患者中检测到 FVL,而在对照组中不存在 (p = 0.047)。8.33% 的患者发现凝血酶原 G20210A 突变,而对照组为 11.11%(p = 0.631)。发现 FVL 突变与妊娠中期发生的流产显着相关(p = 0.001)。FVL 突变与 RPL 之间存在显着关联,尤其是妊娠中期发生的丢失。没有发现关于凝血酶原 G20210A 突变的相关性。8.33% 的患者发现凝血酶原 G20210A 突变,而对照组为 11.11%(p = 0.631)。发现 FVL 突变与妊娠中期发生的流产显着相关(p = 0.001)。FVL 突变与 RPL 之间存在显着关联,尤其是妊娠中期发生的丢失。没有发现关于凝血酶原 G20210A 突变的相关性。8.33% 的患者发现凝血酶原 G20210A 突变,而对照组为 11.11%(p = 0.631)。发现 FVL 突变与妊娠中期发生的流产显着相关(p = 0.001)。FVL 突变与 RPL 之间存在显着关联,尤其是妊娠中期发生的丢失。没有发现关于凝血酶原 G20210A 突变的相关性。
更新日期:2020-08-17
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