Slezak Ryszard, Łaczmański Łukasz, Karpiński Paweł, Reszczyńska-Slezak Dorota
Katedra i Zakład Genetyki Akademii Medycznej we Wrocławiu, Polska.
Ginekol Pol. 2011 Jun;82(6):446-50.
The objective of this study was to investigate the prevalence of common hereditary risk factors for thrombophilia (mutations 1691G>A, 20210G>A and 677C>T variant in factor V Leiden (FV), prothrombin (FII) and MTHFR gene, respectively)--in a cohort of women with early pregnancy loss.
Frequency of mutations in FV, FII and MTHFR was assessed by PCR-RFLP or minisequencing in a cohort of 313 women with a history of at least two miscarriages and the control group consisting of 200 women without obstetric complications.
Compared with controls, neither FV mutation (3.2% vs 3%; p=0.45) nor the MTHFR 677TT variant (8.4% vs 11.1%; p=0.58) was more prevalent in the patients. Mutation in FII gene was more frequent in the patients (3.5% vs 0.5%; p=0.03) when compared with controls, however, the frequency of this mutation in controls was lower than estimated frequency in the population.
本研究的目的是调查血栓形成倾向常见遗传危险因素（分别为因子V Leiden（FV）、凝血酶原（FII）和亚甲基四氢叶酸还原酶（MTHFR）基因中的1691G>A、20210G>A和677C>T变异）在早期妊娠丢失女性队列中的患病率。
通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）或微测序法评估313例有至少两次流产史的女性队列以及由200例无产科并发症的女性组成的对照组中FV、FII和MTHFR基因突变的频率。
与对照组相比，患者中FV突变（3.2%对3%；p = 0.45）和MTHFR 677TT变异（8.4%对11.1%；p = 0.58）均未更普遍。与对照组相比，患者中FII基因突变更频繁（3.5%对0.5%；p = 0.03），然而，该突变在对照组中的频率低于人群中的估计频率。
