遗传性血栓病基因多态性与偶发性和复发性流产的关系

L. Chorna, H. Makukh, D. Zastavna, Ya.Yu. Zaganyach, O. Kolodiy, O. Kovtun
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引用次数: 0

摘要

的目标。尽管对可能的流产原因进行了大量的科学研究,但在大约50%的病例中,其病因仍不清楚。探讨血栓形成相关基因多态性FGB 455G/A、FII 20210 G/A、FV 1691G/A、ITGA2 807C/T、PAI-1 5G/4G和MTHFR 677C/T在散发性和复发性流产妇女中的流行情况。方法。ⅰ组为散发性流产(SM) 35例,ⅱ组为复发性流产(RM) 57例,对照组55例。采用PCR-RFLP进行基因检测。结果。在第一组SM女性中,FGB基因的455GA基因型更为常见,该基因型的存在使SM的风险增加4倍,455A等位基因的存在使SM的风险增加2倍。莱顿突变使SM的风险增加了5倍。在II组RM女性中,FGB基因455 AA基因型的频率更普遍,RM的风险增加2.5倍。结果表明,存在Leiden突变时,RM的风险增加了4倍。PAI-1 5G/4G多态性的4G等位基因导致RM的风险增加2倍,MTHFR基因的677TT基因型的存在使RM的风险增加3倍。结论。遗传性血栓病等位基因FGB基因455A、FV基因1691A、PAI-1基因4G和MTHFR基因677T的遗传因子是具有显著生殖损失风险的等位基因,既有散发的,也有较大程度的复发性。关键词:散发性流产,复发性流产。流产,遗传性血栓,基因多态性。
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Association of inherited thrombophilia gene polymorphism with sporadic and recurrent miscarriages
Aim. Despite numerous scientific studies of possible causes of miscarriage, their etiology remains unclear in approximately 50% of cases. Investigate the prevalence of thrombophilia associated gene polymorphism FGB 455G/A, FII 20210 G/A, FV 1691G/A, ITGA2 807C/T, PAI-1 5G/4G and MTHFR 677C/T in women with sporadic and recurrent miscarriages. Methods. Group I included 35 women with sporadic miscarriage (SM), group II consisted of 57 women with recurrent miscarriage (RM) and 55 women of control group. Genetic testing was performed by PCR-RFLP. Results. In group I of women with SM the 455GA genotype of the FGB gene was more common and its presence in the genotype increases the risk of SM by 4 times and the presence of the 455A allele by 2 times. The Leiden mutation increases the risk of SM by 5 times. In II group of women with RM, the frequency of the 455 AA genotype of the FGB gene was more prevalent and the risk of RM was increased 2.5 times. It is shown that the risk of RM increases 4 times in the presence of the Leiden mutation. The 4G allele of the PAI-1 5G/4G polymorphism leads to a 2-fold increase in the risk of RM, and the presence of the 677TT genotype of the MTHFR gene increases the risk of RM by 3 times. Conclusions. Genetic factors of inherited thrombophilia alleles 455A of the FGB gene, 1691A of the FV gene, 4G of the PAI-1 gene and 677T of the MTHFR gene are alleles of significant risk of reproductive losses both sporadic and, to a greater extent, recurrent. Keywords: sporadic miscarriage, recurrent.miscarriage, inherited thrombophilia, genetic polymorphism.
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