Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage
Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriage
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DOI：
10.1111/j.1600-0897.2006.00376.x
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发表时间：
2006-05-01
影响因子：
3.6
通讯作者：
Roussev, R
中科院分区：
文献类型：
--
作者：
Coulam, CB;Jeyendran, RS;Roussev, R
复发性流产是一种异质性疾病。虽然获得性血栓形成倾向的作用已被接受为复发性流产的病因，特定的遗传性血栓形成基因对这种疾病的贡献仍然存在争议。研究方法总共有150名有两次或两次以上反复流产史的妇女和20名没有流产史的有生育能力的对照妇女，取颊拭子进行10种基因突变[因子V G1691 A，因子V H1299 R（R2）、因子V Y1702 C、因子II凝血酶原G20210 A、因子XIII V34 L、β-纤维蛋白原-455 G> A、派-1 4G/5G、HPA 1 a/B b（L33 P）、MTHFR C677 T、MTHFR A1298 C]。这些突变的患病率之间的妇女经历复发性流产和controls.Results检测到特定基因突变的频率没有差异时，复发性流产的妇女与对照组妇女相比。然而，复发性流产患者的纯合突变和总基因突变的患病率显著高于对照组。在59%有反复流产史的妇女中发现纯合子突变，而对照组妇女为10%。超过三个基因突变的10个基因中观察到68%的妇女与复发性流产和21%的controls.Conclusion遗传性血栓形成与复发性流产。这种关联通过突变的总数而不是涉及的特定基因来表现。
Problem Recurrent miscarriage is a heterogeneous condition. While the role of acquired thrombophilia has been accepted as an etiology of recurrent miscarriage, the contribution of specific inherited thrombophilic genes to this disorder has remained controversial. We compared the prevalence of 10 thrombophilic gene mutations among women with a history of recurrent miscarriages and fertile control women.Method of study A total of 150 women with a history of two or more recurrent pregnancy losses and 20 fertile control women with no history of pregnancy losses had buccal swabs taken for DNA analyses of 10 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), MTHFR C677T, MTHFR A1298C]. The prevalence of these mutations was compared between women experiencing recurrent miscarriage and controls.Results No differences in the frequency of specific gene mutations were detected when women with recurrent miscarriage were compared with control women. However, the prevalence of homozygous mutations and total gene mutations among patients with recurrent miscarriage was significantly higher than among controls. Homozygous mutations were found in 59% of women with a history of recurrent pregnancy loss contrasted to 10% of control women. More than three gene mutations among the 10 genes studied were observed in 68% of women with recurrent miscarriage and 21% of controls.Conclusion Inherited thrombophilias are associated with recurrent miscarriage. This association is manifest by total number of mutations rather than specific genes involved.