Association of resistance to activated protein with the presence of Leiden and Cambridge Factor V mutations in Mexican patients with primary thrombophilia

被引:0
作者
Zavala-Hernandez, Cesar [2 ]
Hernandez-Zamora, Edgar [1 ]
Martinez-Murillo, Carlos [3 ]
de la Luz Arenas-Sordo, Maria [1 ]
Elena Gonzalez-Orozco, Ana [4 ]
Reyes-Maldonado, Elba [4 ]
机构
[1] Inst Nacl Rehabil, Serv Genet, Mexico City 14389, DF, Mexico
[2] Inst Nacl Rehabil, Lab Cent Patol Clin, Mexico City 14389, DF, Mexico
[3] Hosp Gen Mexico City, Clin Hemostasia & Trombosis, Mexico City, DF, Mexico
[4] Inst Politecn Nacl, Escuela Nacl Ciencias Biol, Lab Citol, Mexico City, DF, Mexico
来源
CIRUGIA Y CIRUJANOS | 2010年 / 78卷 / 02期
关键词
factor V Cambridge; factor V Leiden; thrombophilia; FACTOR-II G20210A; PROTHROMBIN G20210A; C RESISTANCE; PREVALENCE; ARTERIAL; RISK; POLYMORPHISMS; THROMBOSIS; DIAGNOSIS; G1691A;
D O I
暂无
中图分类号
R61 [外科手术学];
学科分类号
摘要
Background: Leiden and Cambridge factor V coagulation mutations and activated protein C resistance (RaPC) are alterations related with vein and artery thrombosis. In this study we aimed to determine whether RaPC is associated with the presence of Leiden and Cambridge mutation and the frequency of these mutations in the racially mestizo Mexican population. Methods: We included 150 Mexican patients with primary thrombophilia and 100 healthy subjects in this study. RaPC was determined using commercial methods and genotypes FV Leiden and FV Cambridge with PCR-RFLPs. Results: RaPC was positive in four patients and in one control individual; however, there was no presence of Leiden or Cambridge mutation in the studied group; thus, RaPC was not correlated with the presence of any of the studied mutations. Conclusions: These results indicate that there are other primary or secondary causes different from those studied, which condition the presence of RaPC. Furthermore, the frequency obtained for RaPC in our thrombophilic population of racially mixed Mexicans is lower compared to that obtained in the Caucasian population, most probably because they are genetically different populations.
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页码:127 / 132
页数:6
相关论文
共 29 条
[1]   Factor V Leiden - the commonest molecular defect in arterial and venous thrombophilia in India [J].
Ahmed, RPH ;
Gupta, PK ;
Kannan, M ;
Choudhry, VP ;
Saxena, R .
THROMBOSIS RESEARCH, 2003, 110 (01) :19-21
[2]   Effect of plasminogen activator inhibitor-1 4G/5G polymorphism in Turkish deep vein thrombotic patients with and without FV1691 G-A [J].
Akar, N ;
Yilmaz, E ;
Akar, E ;
Avcu, F ;
Yalçin, A ;
Cin, S .
THROMBOSIS RESEARCH, 2000, 97 (04) :227-230
[3]  
Alvarez Araceli, 1999, Sangre (Saragossa), V44, P7
[4]   MUTATION IN BLOOD-COAGULATION FACTOR-V ASSOCIATED WITH RESISTANCE TO ACTIVATED PROTEIN-C [J].
BERTINA, RM ;
KOELEMAN, BPC ;
KOSTER, T ;
ROSENDAAL, FR ;
DIRVEN, RJ ;
DERONDE, H ;
VANDERVELDEN, PA ;
REITSMA, PH .
NATURE, 1994, 369 (6475) :64-67
[5]   Blood coagulation [J].
Dahlback, B .
LANCET, 2000, 355 (9215) :1627-1632
[6]   Activated protein C resistance and thrombosis:: Molecular mechanisms of hypercoagulable state due to FVR506Q mutation [J].
Dahlbäck, B .
SEMINARS IN THROMBOSIS AND HEMOSTASIS, 1999, 25 (03) :273-289
[7]   FAMILIAL THROMBOPHILIA DUE TO A PREVIOUSLY UNRECOGNIZED MECHANISM CHARACTERIZED BY POOR ANTICOAGULANT RESPONSE TO ACTIVATED PROTEIN-C - PREDICTION OF A COFACTOR TO ACTIVATED PROTEIN-C [J].
DAHLBACK, B ;
CARLSSON, M ;
SVENSSON, PJ .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (03) :1004-1008
[9]   Prevalence of factor V Leiden, factor V Cambridge, factor II G20210A and methylenetetrahydrofolate reductase C677T mutations in healthy and thrombophilic Serbian populations [J].
Djordjevic, V ;
Rakicevic, LJ ;
Mikovic, D ;
Kovac, M ;
Miljic, P .
ACTA HAEMATOLOGICA, 2004, 112 (04) :227-229
[10]  
Dupérat VG, 1998, BLOOD COAGUL FIBRIN, V9, P549