Archives of Medical Research
Volume 35, Issue 6 , Pages 546-548 , November 2004

Prevalence of factor V Leiden and G6PD 1311 silent mutations in dalmatian population

  • Vedrana Čikeš

      Affiliations

    • Laboratory for Molecular Biology, University of Split, School of Medicine, Split, Croatia
    • ,
  • Irina Abaza

      Affiliations

    • Laboratory for Molecular Biology, University of Split, School of Medicine, Split, Croatia
    • ,
  • Vjekoslav Krželj

      Affiliations

    • Department of Paediatrics
    • ,
  • Ivana Marinović Terzić

      Affiliations

    • Laboratory for Molecular Biology, University of Split, School of Medicine, Split, Croatia
    • ,
  • Robert Tafra

      Affiliations

    • Laboratory for Molecular Biology, University of Split, School of Medicine, Split, Croatia
    • ,
  • Anuška Trlaja

      Affiliations

    • Transfusion Medicine, University Hospital, Split, Croatia
    • ,
  • Eugenija Marušić

      Affiliations

    • Department of Paediatrics
    • ,
  • Janoš Terzić

      Affiliations

    • Laboratory for Molecular Biology, University of Split, School of Medicine, Split, Croatia
    • Corresponding Author InformationAddress reprint requests to: Janoš Terzić, Assistant Professor, University of Split, School of Medicine, Šoltanska 2, 21000 Split, Croatia. Tel. +385 21 557 944; Fax. +385 21 465 304

Received 26 March 2004 ,Accepted 7 July 2004.

References 

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  2. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden thrombophilia study. Lancet. 1993;342:1503–1506
  3. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133–1134
  4. Pepe G, Rickards O, Vanegas OC, Brunelli T, Gori AM, Giusti B, et al. Prevalence of factor V Leiden mutation in non-European populations. Thromb Haemost. 1997;77:329–331
  5. Lucotte G, Mercier G. Population genetics of factor V Leiden in Europe. Blood Cells Mol Dis. 2001;27:362–367
  6. Vulliamy T, Mason P, Luzzatto L. The molecular basis of glucose-6-phosphate dehydrogenase deficiency. Trends Genet. 1992;8:138–143
  7. Beutler E, Kuhl W. The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. Am J Hum Genet. 1990;47:1008–1012
  8. Matsuoka H, Jichun W, Hirai M, Yoshida S, Arai M, Ishii A, et al. Two cases of glucose-6-phosphate dehydrogenase-deficient Nepalese belonging to the G6PD Mediterranean-type, not India-Pakistan sub-type but Mediterranean-Middle East sub-type. J Hum Genet. 2003;48:275–277
  9. Mortazavi Y, Chopra R, Gordon-Smith EC, Rurherford TR. Frequency of G6PD nt 1311 C/T polymorphism in English and Iranian populations: relevance to studies of X chromosome inactivation. J Med Genet 1997 34:1028–1029.
  10. Walker DH, Hawkins HK, Hudson P. Fulminant Rocky Mountain spotted fever. Its pathologic characteristics associated with glucose-6-phosphate dehydrogenase deficiency. Arch Pathol Lab Med. 1983;107:121–125
  11. Jewett JF. Sickle-cell trait, thalassemia, G-6-PD deficiency and puerper pulmonary embolism. N Engl J Med. 1976;295:1076–1077
  12. Terzic J, Krzelj V, Drmic I, Andjelinovic S, Primorac D, Mestrovic J, et al. Genetic analysis of the glucose-6-phosphate dehydrogenase deficiency in Southern Croatia. Coll Antropol. 1998;22:485–489
  13. Kirkwood BR. Essentials of Medical Statistics. Oxford: Blackwell Scientific Publications; 1991;p.183
  14. Ioannou HV, Mitsis M, Eleftheriou A, Matsagas M, Nousias V, Rigopoulos C, et al. The prevalence of factor B Leiden as a risk factor for venous thromboembolism in the population of North-Western Greece. Int Angiol. 2000;19:314–318
  15. Cattaneo M, Chantarangkul V, Taioli E, Santos JH, Tagliabue L. The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels. Thromb Res. 1999;93:1–8
  16. Renner W, Koppel H, Hoffmann C, Schallmoser K, Stanger O, Toplak H, et al. Prothrombin G20210A, factor V Leiden, and factor XIII Val34Leu: common mutations of blood coagulation factors and deep vein thrombosis in Austria. Thromb Res. 2000;99:35–39
  17. Krželj V, Zlodre S, Terzić J, Mestrović M, Jakšić J, Pavlov N. Prevalence of G-6-PD deficiency in the Croatian Adriatic coast population. Arch Med Res. 2001;32:454–457
  18. Cittadella R, Civitelli D, Manna I, Azzia N, Di Cataldo A, Schiliro G, et al. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily. Ann Hum Genet. 1997;61:229–234
  19. Ruzzo A, Ninfali P, Magnani M. Glucose-6-phosphate dehydrogenase nucleotide 1311 polymorphism in central Italy (Marche region). Enzyme Protein. 1993;47:22–26
  20. Jablonska-Skwiecinska E, Zimowski JG, Klopocka J, Bisko M, Hoffman-Zacharska D, Zaremba J. Erythrocyte glucose-6-phosphate dehydrogenase deficiency in Poland—a study on the 563 and 1311 mutations of the G6PD gene. Eur J Hum Genet. 1997;5:22–24

PII: S0188-4409(04)00105-5

doi: 10.1016/j.arcmed.2004.07.005

Archives of Medical Research
Volume 35, Issue 6 , Pages 546-548 , November 2004

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