AUB ScholarWorks

Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon

Show simple item record

dc.contributor.author Hoteit R.
dc.contributor.author Taher A.
dc.contributor.author Nassar R.
dc.contributor.author Otrock Z.
dc.contributor.author Halawi R.
dc.contributor.author Mahfouz R.A.R.
dc.contributor.editor
dc.date Mar-2012
dc.date.accessioned 2017-10-05T15:59:33Z
dc.date.available 2017-10-05T15:59:33Z
dc.date.issued 2012
dc.identifier 10.1089/gtmb.2011.0114
dc.identifier.isbn
dc.identifier.issn 19450265
dc.identifier.uri http://hdl.handle.net/10938/19075
dc.description.abstract Aim: Molecular diagnostics has markedly improved the diagnosis and workup of different clinical conditions including hypercoagulable state or thrombophilia where different genes are involved. In this report, which is the largest report in the medical literature and the first in Lebanon, we describe the prevalence of simultaneous mutations in the three major thrombophilia genes Factor V, Factor II, and methylenetetrahydrofolate reductase. Materials and Methods: Using a polymerase chain reaction and reverse hybridization assay for the corresponding mutations identification, 2248 referred cases were analyzed. Results: Only 25 cases were found to be simultaneously positive for the three mutations at a prevalence rate of 1.1percent. Conclusion: Compared with other populations, this prevalence rate is considered high, possibly the highest, and warrants future clinical studies and follow-up. © Copyright 2012, Mary Ann Liebert, Inc..
dc.format.extent
dc.format.extent Pages: (223-225)
dc.language English
dc.publisher NEW ROCHELLE
dc.relation.ispartof Publication Name: Genetic Testing and Molecular Biomarkers; Publication Year: 2012; Volume: 16; no. 3; Pages: (223-225);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon
dc.type Article
dc.contributor.affiliation Hoteit, R., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon
dc.contributor.affiliation Taher, A., Department of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon
dc.contributor.affiliation Nassar, R., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon
dc.contributor.affiliation Otrock, Z., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon
dc.contributor.affiliation Halawi, R., Department of Internal Medicine, American University of Beirut Medical Center (AUBMC), Beirut, Lebanon
dc.contributor.affiliation Mahfouz, R.A.R., Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon
dc.contributor.authorAddress Mahfouz, R.A.R.; Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), P.O. Box 11-0236, Riad El Solh 1107 2020, Beirut, Lebanon; email: rm11@aub.edu.lb
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pathology and Laboratory Medicine;
dc.contributor.authorDepartment Pathology and Laboratory Medicine
dc.contributor.authorDivision
dc.contributor.authorEmail rm11@aub.edu.lb
dc.contributor.faculty Faculty of Medicine
dc.contributor.authorInitials Hoteit, R
dc.contributor.authorInitials Taher, A
dc.contributor.authorInitials Nassar, R
dc.contributor.authorInitials Otrock, Z
dc.contributor.authorInitials Halawi, R
dc.contributor.authorInitials Mahfouz, RAR
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Mahfouz, RAR (reprint author), AUBMC, Dept Pathol and Lab Med, POB 11-0236, Beirut 11072020, Lebanon.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited Arslan S, 2011, MOL BIOL REP, V38, P2395, DOI 10.1007-s11033-010-0373-y; Botto LD, 2000, AM J EPIDEMIOL, V151, P862; Bourouba R, 2009, CLIN APPL THROMB-HEM, V15, P529, DOI 10.1177-1076029608319944; Caramaschi P, 2010, JOINT BONE SPINE, V77, P330, DOI 10.1016-j.jbspin.2010.02.022; Duga S, 2004, INT J BIOCHEM CELL B, V36, P1393, DOI 10.1016-j.biocel.2003.08.002; Ehrenforth S, 1999, ARTERIOSCL THROM VAS, V19, P276; Ehrenforth S, 1998, BLOOD, V91, P2209; Emmerich J, 2001, THROMB HAEMOSTASIS, V86, P809; Jayandharan G, 2005, J THROMB HAEMOST, V3, P1446, DOI 10.1111-j.1538-7836.2005.01402.x; Kfoury E, 2009, MOL BIOL REP, V36, P1041, DOI 10.1007-s11033-008-9278-4; Makris M, 1997, THROMB HAEMOSTASIS, V78, P1426; Margaglione M, 1999, THROMB HAEMOSTASIS, V82, P1583; Mozafari H, 2009, MOL BIOL REP, V36, P2361, DOI 10.1007-s11033-009-9458-x; Otrock ZK, 2008, ANN HEMATOL, V87, P1013, DOI 10.1007-s00277-008-0543-3; Rahimi Z, 2011, MOL BIOL REP, V38, P2117, DOI 10.1007-s11033-010-0338-1; Rahimi Z, 2011, MOL BIOL REP, V38, P703, DOI 10.1007-s11033-010-0157-4; Sabbagh A, 2009, MOL BIOL REP, V36, P399, DOI 10.1007-s11033-007-9193-0; Sabbagh AS, 2008, GENET TEST, V12, P75, DOI 10.1089-gte.2007.0064; Said JM, 2010, OBSTET GYNECOL, V115, P5, DOI 10.1097-AOG.0b013e3181c68907; Severinsen MT, 2010, BRIT J HAEMATOL, V149, P273, DOI 10.1111-j.1365-2141.2010.08086.x; Simioni P, 2000, BLOOD, V96, P3329; Spiroski I, 2008, CROAT MED J, V49, P39, DOI 10.3325-cmj.2008.1.39; Taher A, 2001, THROMB HAEMOSTASIS, V86, P723; Tatarskyy P, 2010, Tsitol Genet, V44, P3; Zahed LF, 2006, AM J OBSTET GYNECOL, V195, P1114, DOI 10.1016-j.ajog.2006.06.082; Zoller B, 1998, BLOOD, V91, P2210
dc.description.citedCount 2
dc.description.citedTotWOSCount 1
dc.description.citedWOSCount 1
dc.format.extentCount 3
dc.identifier.articleNo
dc.identifier.coden
dc.identifier.pubmedID 22023246
dc.identifier.scopusID 84858802263
dc.identifier.url
dc.publisher.address 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA
dc.relation.ispartofConference
dc.relation.ispartofConferenceCode
dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Genet. Test. Mol. Biomark.
dc.relation.ispartOfIssue 3
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Genetic Testing and Molecular Biomarkers
dc.relation.ispartofPubTitleAbbr Gent. Test. and Mol. Biomarkers
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 16
dc.source.ID WOS:000301777000014
dc.type.publication Journal
dc.subject.otherAuthKeyword
dc.subject.otherChemCAS blood clotting factor 5, 9001-24-5, 9013-23-4
dc.subject.otherChemCAS methylenetetrahydrofolate reductase (NADPH2), 71822-25-8
dc.subject.otherChemCAS prothrombin, 9001-26-7
dc.subject.otherChemCAS Factor V, 9001-24-5
dc.subject.otherChemCAS MTHFR protein, human, 1.5.1.20
dc.subject.otherChemCAS Methylenetetrahydrofolate Reductase (NADPH2), 1.5.1.20
dc.subject.otherChemCAS Prothrombin, 9001-26-7
dc.subject.otherIndex blood clotting factor 5
dc.subject.otherIndex methylenetetrahydrofolate reductase (NADPH2)
dc.subject.otherIndex prothrombin
dc.subject.otherIndex article
dc.subject.otherIndex controlled study
dc.subject.otherIndex gene frequency
dc.subject.otherIndex gene mutation
dc.subject.otherIndex human
dc.subject.otherIndex human tissue
dc.subject.otherIndex hybridization
dc.subject.otherIndex Lebanon
dc.subject.otherIndex major clinical study
dc.subject.otherIndex medical literature
dc.subject.otherIndex molecular genetics
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex tertiary health care
dc.subject.otherIndex thrombophilia
dc.subject.otherIndex Academic Medical Centers
dc.subject.otherIndex Asian Continental Ancestry Group
dc.subject.otherIndex Factor V
dc.subject.otherIndex Female
dc.subject.otherIndex Gene Frequency
dc.subject.otherIndex Genetic Predisposition to Disease
dc.subject.otherIndex Humans
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Male
dc.subject.otherIndex Methylenetetrahydrofolate Reductase (NADPH2)
dc.subject.otherIndex Mutation
dc.subject.otherIndex Polymerase Chain Reaction
dc.subject.otherIndex Prevalence
dc.subject.otherIndex Prothrombin
dc.subject.otherIndex Referral and Consultation
dc.subject.otherIndex Risk Factors
dc.subject.otherIndex Thrombophilia
dc.subject.otherKeywordPlus DEEP VENOUS THROMBOSIS
dc.subject.otherKeywordPlus INHERITED THROMBOPHILIA
dc.subject.otherKeywordPlus PREGNANCY OUTCOMES
dc.subject.otherKeywordPlus HIGH PREVALENCE
dc.subject.otherKeywordPlus GLN MUTATION
dc.subject.otherKeywordPlus ARG 506
dc.subject.otherKeywordPlus THROMBOEMBOLISM
dc.subject.otherKeywordPlus LEIDEN
dc.subject.otherKeywordPlus RISK
dc.subject.otherKeywordPlus CARRIERS
dc.subject.otherWOS Biochemistry and Molecular Biology
dc.subject.otherWOS Genetics and Heredity


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search AUB ScholarWorks


Browse

My Account