Multiplex PCR-RFLP assay for detection of factor V Leiden and prothrombin G20210A

被引：7

作者：

Baris, I ^{[1
]}

Koksal, V

Etlik, O

机构：

[1] Bogazici Univ, Dept Mol Biol & Genet, TR-34342 Istanbul, Turkey

[2] Burc Mol Diagnost Lab, TR-34365 Istanbul, Turkey

[3] Ahenk Clin Lab, TR-34365 Istanbul, Turkey

来源：

GENETIC TESTING | 2004年 / 8卷 / 04期

关键词：

D O I：

10.1089/gte.2004.8.381

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Factor V Leiden and prothrombin G20210A are clinically relevant genetic risk factors for venous thrombosis. Molecular diagnostic testing for factor V Leiden and prothrombin G20210A is widespread, and laboratories use a variety of technical approaches. Here we introduce a multiplex polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) based on single (Mnll) restriction endonuclease digestion. The assay was shown to simultaneously and accurately detect factor V Leiden and prothrombin G20210A mutations.

引用

页码：381 / 383

页数：3

共 14 条

[1] 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

[2]

Endler G, 2001, CLIN CHEM, V47, P333

[3] Rapid simultaneous screening of factor V Leiden and G20210A prothrombin variant by multiplex polymerase chain reaction on whole blood [J].

Gómez, E ;

van der Poel, SCPAM ;

Jansen, JH ;

van der Reijden, BA ;

Löwenberg, B .

BLOOD, 1998, 91 (06) :2208-2209

[4] Analytical evaluation of primer engineered multiplex polymerase chain reaction-restriction fragment length polymorphism for detection of factor V Leiden and prothrombin G20210A [J].

Huber, S ;

McMaster, KJ ;

Voelkerding, KV .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2000, 2 (03) :153-157

[5]

Keeney S, 1999, THROMB HAEMOSTASIS, V81, P464

[6] Development of a simple multiplex polymerase chain reaction for the simultaneous detection of factor V Leiden and prothrombin 20210A mutations [J].

Lastrucci, RMD ;

Dawson, DA ;

Bowden, JH ;

Münster, M .

MOLECULAR DIAGNOSIS, 1999, 4 (03) :247-250

[7]

Linfert D R, 1998, Conn Med, V62, P519

[8] Duplex PCR-RFLP for simultaneous detection of factor V Leiden and prothrombin G20210A [J].

Lucotte, G ;

Champenois, T .

MOLECULAR AND CELLULAR PROBES, 2003, 17 (05) :267-269

[9]

Mitterer M, 1999, HAEMATOLOGICA, V84, P204

[10] A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis [J].

Poort, SR ;

Rosendaal, FR ;

Reitsma, PH ;

Bertina, RM .

BLOOD, 1996, 88 (10) :3698-3703

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