Behjati Reza, Modarressi Mohammad Hossein, Jeddi-Tehrani Mahmood, Dokoohaki Pouneh, Ghasemi Jamileh, Zarnani Amir Hassan, Aarabi Mahmoud, Memariani Toktam, Ghaffari Marefat, Akhondi Mehdi A
Reproductive Biology, Biotechnology and Infertility Research Center, Avesina Research Institute, Tehran, Iran.
Ann Hematol. 2006 Apr;85(4):268-71. doi: 10.1007/s00277-005-0021-0. Epub 2006 Feb 1.
Factor V Leiden (FVL) G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, the condition that might be related to infertility and recurrent spontaneous abortion (RSA). In this study we evaluated the presence of these three mutations in 36 female patients with unexplained infertility, 65 female patients with unexplained RSA, and 62 healthy fertile women as control group. DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of each mutation. In addition, activated protein C resistance (APC-R) was also evaluated. The frequencies of FVL, MTHFR, and FII mutations (heterozygous and homozygous) in the control group were 0.0%, 38.7%, and 3.2%, respectively. The frequency of FVL mutation in patients with infertility (30.6%) or RSA (20.0%) was significantly higher than that of the control group. A significantly higher MTHFR mutation rate was also observed in patients with RSA (63.1%) as compared to controls. However, the mutation rate of MTHFR in patients with infertility (50.0%) was not statistically different from that in controls. No significant difference was observed in the frequencies of FII mutations between the patients and controls. Decreased levels of APC-R were observed in 25.0% of infertile patients and 18.9% of patients with RSA. In conclusion, our results show a skew towards higher mutation frequencies of FVL and MTHFR in patients that may necessitate detection of such mutations in these Iranian patients.
凝血因子V莱顿（FVL）G1691A、亚甲基四氢叶酸还原酶（MTHFR）C677T和凝血因子II（FII）G20210A突变是血栓形成倾向的三个重要原因，这种情况可能与不孕和复发性自然流产（RSA）有关。在本研究中，我们评估了36例不明原因不孕女性患者、65例不明原因RSA女性患者以及62例健康可育女性（作为对照组）中这三种突变的存在情况。从外周血样本中提取DNA，并进行PCR-RFLP以对每种突变进行分子诊断。此外，还评估了活化蛋白C抵抗（APC-R）情况。对照组中FVL、MTHFR和FII突变（杂合子和纯合子）的频率分别为0.0%、38.7%和3.2%。不孕患者（30.6%）或RSA患者（20.0%）中FVL突变的频率显著高于对照组。与对照组相比，RSA患者（63.1%）中也观察到显著更高的MTHFR突变率。然而，不孕患者（50.0%）中MTHFR的突变率与对照组相比无统计学差异。患者与对照组之间FII突变的频率未观察到显著差异。在25.0%的不孕患者和18.9%的RSA患者中观察到APC-R水平降低。总之，我们的结果表明，这些伊朗患者中FVL和MTHFR的突变频率可能更高，可能需要检测此类突变。
