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INTERNATIONAL ANGIOLOGY

Rivista di Angiologia


Official Journal of the International Union of Angiology, the International Union of Phlebology and the Central European Vascular Forum
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International Angiology 2003 March;22(1):79-82

Copyright © 2003 EDIZIONI MINERVA MEDICA

lingua: Inglese

The impact of heterozygosity for the factor V Leiden and factor II G20210A mutations on the risk of thrombosis in Greek patients

Hatzaki A. 1, Anagnostopoulou E. 1, Metaxa-Mariatou V. 1, Melissinos C. 2, Philalithis P. 3, Iliadis K. 4, Kontaxis A. 4, Liberatos K. 5, Pangratis N. 6, Nasioulas G. 1

1 Molecular Biology Department Research Center Hygeia “Antonis Papayiannis”, Athens, Athens, Greece 2 Pneumonology Clinic, Hygeia Diagnostic and Therapeutic Centre of Athens, Athens, Greece 3 1st Department of Internal Medicine, Hygeia Diagnostic and Therapeutic Centre of Athens, Athens, Greece 4 Thoracic Surgery Clinic, Hygeia Diagnostic and Therapeutic Centre of Athens, Athens, Greece 5 2nd Department of Internal Medicine, Hygeia Diagnostic and Therapeutic Centre of Athens, Athens, Greece 6 Angiology Department, Hygeia Diagnostic and Therapeutic Centre of Athens, Athens, Greece


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Aim. There is grow­ing evi­dence that a num­ber of genet­ic risk fac­tors pre­dis­pose inde­pen­dent­ly to ­venous throm­bo­sis and the coex­is­tence of defec­tive genes is ­involved in the man­i­fes­ta­tion and recur­rence of throm­bot­ic ­events. The goal of this study was to exam­ine the effi­cien­cy of the selec­tion cri­te­ria for per­form­ing a genet­ic test for the fac­tor V G1691A (Leid­en) and fac­tor II G20210A muta­tions.
Meth­ods. Blood sam­ples were drawn from 119 ­patients ­referred to us by their phy­si­cians. FV and pro­throm­bin (FII) muta­tions were detect­ed by poly­me­rase chain reac­tion (PCR) fol­lowed by diges­tion with restric­tion endo­nu­cle­as­es MnlI (FV), Hin­dIII and MspI (FII).
­Results. ­Patient car­ri­er fre­quen­cies were 16.8% and 10.08% for FV Leid­en and FII G20210A, respec­tive­ly. Het­er­o­zy­gos­ity for FII G20210A was ­observed in 10.0% of FV Leid­en car­riers where­as FV Leid­en homo­zy­gos­ity was noted in 1.68% of the ­patients. Gen­o­type fre­quen­cies were in con­for­mity with Hardy-Wein­berg equi­lib­ri­um by the χ2 good­ness of fit test.
Con­clu­sion. The ­obtained data pro­vid­ed a sub­stan­tial genet­ic expla­na­tion of the throm­bot­ic phe­no­type in approx­i­mate­ly 25% of the ­patients and thus the phy­si­cians selec­tion cri­te­ria were suf­fi­cient for genet­ic test­ing. Fur­ther­more, coin­her­i­tance of both genet­ic ­defects were sig­nif­i­cant­ly asso­ciat­ed with ­increased throm­bo­sis risk and that of recur­rent throm­bo­sis.

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