马赞德兰省萨里市复发性流产患者凝血因子V中的H1299R和亚甲基四氢叶酸还原酶（MTHFR）基因中的Glu429Ala
H1299R in coagulation Factor V and Glu429Ala in MTHFR genes in recurrent pregnancy loss in Sari, Mazandaran.
作者信息
Arabkhazaeli Nadia, Ghanaat Kasra, Hashemi-Soteh Mohammad Bagher
机构信息
Department of Genetic, Faculty of Science, Damghan Branch, Islamic Azad University, Damghan, Iran.
Department of Clinical Biochemistry and Genetics, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
出版信息
Int J Reprod Biomed. 2016 May;14(5):329-34.
BACKGROUND
Recurrent pregnancy loss (RPL) is caused by different factors, including genetics and thrombophilia. Beside Factor V Leiden, another nucleotide change in a factor V (FV) gene (A4070G; His1299Arg) has been identified linking to hereditary thrombophilia. Also, two proposed MTHFR polymorphisms, C677T and A1298C (Glu429A) are linked with RPL.
OBJECTIVE
In this study, the effect of two factors, A4070G in FV and A1298C in MTHFR are evaluated in RPL patients from Mazandaran province, Iran.
MATERIALS AND METHODS
Sample population of 100 women with RPL and 100 controls with Mazandarani ethnics from northern Iran were consist. The factor V (A4070G) and MTHFR (A1298C) polymorphisms were genotyped by PCR-RFLP.
RESULTS
Molecular study showed 5 women from patients and 9 women from control group were heterozygous AG for A4070G. Frequency of "A" allele in patient and control groups was 97.5% (0.975) and 95.5% (0.955) respectively, and "G" allele frequency was 2.5% (0.025) and 4.5% (0.045) respectively. No significant association (p≤0.05) between FV A4070G genotype and RPL with an OR=1.88, CI 95%=0.6-5.82, was observed (p=0.4). Also, for A1298C, all patients and control individuals were AA genotype. "A" allele frequency in patients and control was 100% and "C" allele frequency was zero. There was no significant difference for A1298C between groups.
CONCLUSION
Our finding showed that A4070G and A1298C polymorphisms cannot be considered as a cause of PRL in women from Mazandaran province, northern Iran.
背景
复发性流产（RPL）由多种因素引起，包括遗传因素和血栓形成倾向。除了因子V莱顿突变外，还发现因子V（FV）基因中的另一种核苷酸变化（A4070G；His1299Arg）与遗传性血栓形成倾向有关。此外，两种假定的亚甲基四氢叶酸还原酶（MTHFR）多态性，即C677T和A1298C（Glu429A）也与复发性流产有关。
目的
在本研究中，评估FV基因中的A4070G和MTHFR基因中的A1298C这两个因素对来自伊朗马赞德兰省复发性流产患者的影响。
材料与方法
选取100例患有复发性流产的女性和100例来自伊朗北部马赞德兰族的对照者作为样本群体。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对因子V（A4070G）和MTHFR（A1298C）多态性进行基因分型。
结果
分子研究显示，患者组中有5名女性和对照组中有9名女性为A4070G杂合子AG型。患者组和对照组中“A”等位基因频率分别为97.5%（0.975）和95.5%（0.955），“G”等位基因频率分别为2.5%（0.025）和4.5%（0.045）。未观察到FV A4070G基因型与复发性流产之间存在显著关联（p≤0.05），比值比（OR）=1.88，95%置信区间（CI）=0.6 - 5.82（p=0.4）。此外，对于A1298C，所有患者和对照个体均为AA基因型。患者组和对照组中“A”等位基因频率均为100%，“C”等位基因频率为零。两组之间A1298C无显著差异。
结论
我们的研究结果表明，A4070G和A1298C多态性不能被视为伊朗北部马赞德兰省女性复发性流产的病因。
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