PROBLEM:Thrombophilia has been associated with poor obstetrical outcomes. To determine the association of specific inherited thrombophilias and recurrent pregnancy loss, 10 thrombophilic genes were investigated.
METHOD OF STUDY:A total of 550 women with a history of recurrent pregnancy loss had buccal swabs taken for DNA analyses of the following gene mutations: factor V G1691A, factor V H1299R (R2), factor V Y1702C, factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C. The frequencies of these mutations were compared with controls published in the literature.
RESULTS:When examined individually, PAI-1 4G/5G (P = 0.009), factor XIII V34L (P < 0.0001), and homozygous MTHFR C667T (P < 0.0001) correlated significantly with recurrent pregnancy loss compared with controls. The frequency of the factor V Y1702C mutation was extremely low in patients and controls; thus, this gene was removed from further calculations. The remaining six mutated genes, when analyzed cumulatively, also corresponded with recurrent pregnancy loss (P < 0.0001).
CONCLUSION:A panel of thrombogenic gene mutations consisting of factor V G1691A, factor V H1299R (R2), factor II prothrombin G20210A, factor XIII V34L, beta-fibrinogen -455G>A, PAI-1 4G/5G, HPA1 a/b(L33P), MTHFR C677T, and MTHFR A1298C can identify individuals at risk for recurrent pregnancy loss.
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【Which thrombophilic gene mutations are risk factors for recurrent pregnancy loss?].
【哪些血栓形成基因突变是复发性流产的危险因素？】
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DOI：10.1111/j.1600-0897.2006.00419.x文章类型：杂志文章
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问题：血友病与产科预后不良有关。为了确定特定遗传性血栓形成症与复发性流产的关联，研究了10个血栓形成性基因。
研究方法：总共550名有反复性流产史的妇女接受了口腔拭子以进行以下基因突变的DNA分析：因子V G1691A，因子V H1299R（R2），因子V Y1702C，因子II凝血酶原G20210A，因子XIII V34L，β-纤维蛋白原-455G> A，PAI-1 4G / 5G，HPA1a / b（L33P），亚甲基四氢叶酸还原酶（MTHFR）C677T，MTHFR A1298C。将这些突变的频率与文献中发表的对照进行了比较。
结果：当单独检查时，与对照组相比，PAI-1 4G / 5G（P = 0.009），XIII因子V34L（P <0.0001）和纯合MTHFR C667T（P <0.0001）与复发性流产显着相关。在患者和对照组中，V Y1702C因子突变的频率非常低。因此，该基因已从进一步的计算中删除。当进行累积分析时，剩下的六个突变基因也与复发性流产相对应（P <0.0001）。
结论：一组血栓形成基因突变，由因子V G1691A，因子V H1299R（R2），因子II凝血酶原G20210A，因子XIII V34L，β-纤维蛋白原-455G> A，PAI-1 4G / 5G，HPA1 a / b（ L33P），MTHFR C677T和MTHFR A1298C可以识别有复发性流产风险的个体。
研究方法：总共550名有反复性流产史的妇女接受了口腔拭子以进行以下基因突变的DNA分析：因子V G1691A，因子V H1299R（R2），因子V Y1702C，因子II凝血酶原G20210A，因子XIII V34L，β-纤维蛋白原-455G> A，PAI-1 4G / 5G，HPA1a / b（L33P），亚甲基四氢叶酸还原酶（MTHFR）C677T，MTHFR A1298C。将这些突变的频率与文献中发表的对照进行了比较。
结果：当单独检查时，与对照组相比，PAI-1 4G / 5G（P = 0.009），XIII因子V34L（P <0.0001）和纯合MTHFR C667T（P <0.0001）与复发性流产显着相关。在患者和对照组中，V Y1702C因子突变的频率非常低。因此，该基因已从进一步的计算中删除。当进行累积分析时，剩下的六个突变基因也与复发性流产相对应（P <0.0001）。
结论：一组血栓形成基因突变，由因子V G1691A，因子V H1299R（R2），因子II凝血酶原G20210A，因子XIII V34L，β-纤维蛋白原-455G> A，PAI-1 4G / 5G，HPA1 a / b（ L33P），MTHFR C677T和MTHFR A1298C可以识别有复发性流产风险的个体。
