Abdulghani Msalati, Abdulla Bashein, Murad Ghrew, Ibtesam Khalil, Khaled Sedaa, Abushawashi Ali, Ahmed Zaid
{"title":"利比亚患者静脉血栓栓塞和心肌梗死与因子V Leiden和因子II基因突变的关系","authors":"Abdulghani Msalati, Abdulla Bashein, Murad Ghrew, Ibtesam Khalil, Khaled Sedaa, Abushawashi Ali, Ahmed Zaid","doi":"10.1080/19932820.2020.1857525","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49910,"journal":{"name":"Libyan Journal of Medicine","volume":"16 1","pages":"1857525"},"PeriodicalIF":1.8000,"publicationDate":"2021-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/19932820.2020.1857525","citationCount":"3","resultStr":"{\"title\":\"Association of venous thromboembolism and myocardial infarction with Factor V Leiden and Factor II gene mutations among Libyan patients.\",\"authors\":\"Abdulghani Msalati, Abdulla Bashein, Murad Ghrew, Ibtesam Khalil, Khaled Sedaa, Abushawashi Ali, Ahmed Zaid\",\"doi\":\"10.1080/19932820.2020.1857525\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":49910,\"journal\":{\"name\":\"Libyan Journal of Medicine\",\"volume\":\"16 1\",\"pages\":\"1857525\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2021-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1080/19932820.2020.1857525\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Libyan Journal of Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/19932820.2020.1857525\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Libyan Journal of Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/19932820.2020.1857525","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Association of venous thromboembolism and myocardial infarction with Factor V Leiden and Factor II gene mutations among Libyan patients.
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.
期刊介绍:
Libyan Journal of Medicine (LJM) is a peer-reviewed, Open Access, international medical journal aiming to promote heath and health education by publishing high-quality medical research in the different disciplines of medicine.
LJM was founded in 2006 by a group of enthusiastic Libyan medical scientists who looked at the contribution of Libyan publications to the international medical literature and saw that a publication outlet was missing. To fill this gap they launched LJM as a tool for transferring current medical knowledge to and from colleagues in developing countries, particularly African countries, as well as internationally.The journal is still led by a group of Libyan physicians inside and outside Libya, but it also enjoys support and recognition from the international medical community.