Department of Biochemistry & Molecular Biology, Faculty of Medicine, University of Tripoli , Tripoli, Libya.
Faculty of Biology, Medicine and Health, University of Manchester , UK.
Libyan J Med. 2021 Dec;16(1):1857525. doi: 10.1080/19932820.2020.1857525.
Factor V Leiden G1691A (FVL) and Factor II prothrombin G20210A (PGM) mutations are the leading causes of thrombophilia. In this study, we have investigated the prevalence of the FVL G1691A and PGM G20210A single nucleotide polymorphisms (SNPs) among Libyan deep vein thrombosis (DVT) and myocardial infarction (MI) patients. SNP genotyping was performed using high-resolution melt analysis (HRM) and DNA sequencing. Biochemical parameters conducted on 112 males and 93 females showed no significant difference in means between the control group and the deep vein thrombosis and myocardial infarction groups. For Factor V Leiden, 40 samples were genotyped. Of the 40 samples, 6 (15.0%) of them were heterozygous and no one was homozygous. As for Factor II SNP, 59 samples were genotyped and only 2 (3.3%) were heterozygous. All the heterozygous samples showed 100% concordance between the HRM-PCR and DNA sequence analysis. Our study showed, for the first time, that both the FVL and PGM mutations are present among Libyan DVT and MI patients and that the FVL mutation is significantly associated with DVT but not with MI. However, our results do not support the association of PGM G20210A mutation with DVT or MI.
因子 V 莱顿 G1691A（FVL）和因子 II 凝血酶原 G20210A（PGM）突变是血栓形成的主要原因。在这项研究中，我们调查了 FVL G1691A 和 PGM G20210A 单核苷酸多态性（SNP）在利比亚深静脉血栓形成（DVT）和心肌梗死（MI）患者中的流行情况。SNP 基因分型采用高分辨率熔解分析（HRM）和 DNA 测序进行。对 112 名男性和 93 名女性进行的生化参数检测显示，对照组和深静脉血栓形成和心肌梗死组之间的平均值没有显著差异。对于因子 V 莱顿，对 40 个样本进行了基因分型。在这 40 个样本中，有 6 个（15.0%）为杂合子，没有一个为纯合子。至于因子 II SNP，对 59 个样本进行了基因分型，只有 2 个（3.3%）为杂合子。所有杂合子样本的 HRM-PCR 和 DNA 序列分析结果完全一致。我们的研究首次表明，FVL 和 PGM 突变均存在于利比亚 DVT 和 MI 患者中，且 FVL 突变与 DVT 显著相关，但与 MI 无关。然而，我们的结果并不支持 PGM G20210A 突变与 DVT 或 MI 有关。
