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Clinical Chemistry 44: 264-269, 1998;
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(Clinical Chemistry. 1998;44:264-269.)
© 1998 American Association for Clinical Chemistry, Inc.

Molecular Pathology and Genetics

Simultaneous determination of methylenetetrahydrofolate reductase C677T and factor V G1691A genotypes by mutagenically separated PCR and multiple-injection capillary electrophoresis

Arve Ulvika, Jicun Ren, Helga Refsum, and Per Magne Ueland

Department of Pharmacology, University of Bergen, Armauer Hansens hus, 5021 Bergen, Norway.
a Author for correspondence. Fax +47-55-974605;

The C677T mutation of the methylenetetrahydrofolate reductase gene and the G1691A (Leiden) mutation of the factor V gene are established risk factors for thromboembolic disease. We here present an assay for the simultaneous genotyping of these common genetic variants. The assay involves a strategy based on multiplex mutagenically separated PCR performed in a single tube containing six primers. Separation of the resulting four PCR products (197, 207, 233, and 246 bp) was performed by capillary electrophoresis coupled with laser-induced fluorescence detection. The time for the automated electrophoresis was reduced to 2.5 min per sample by performing the capillary electrophoresis analysis in a multiple-injection mode.




The following articles in journals at HighWire Press have cited this article:


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 QJMHome page
E. Nurk, G.S. Tell, H. Refsum, P.M. Ueland, and S.E. Vollset
Factor V Leiden, pregnancy complications and adverse outcomes: the Hordaland Homocysteine Study
QJM, May 1, 2006; 99(5): 289 - 298.
[Abstract] [Full Text] [PDF]

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 Clin. Chem.Home page
A. Ulvik and P. M. Ueland
Single Nucleotide Polymorphism (SNP) Genotyping in Unprocessed Whole Blood and Serum by Real-Time PCR: Application to SNPs Affecting Homocysteine and Folate Metabolism
Clin. Chem., November 1, 2001; 47(11): 2050 - 2053.
[Full Text] [PDF]

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 Clin. Chem.Home page
G. Endler, P. A. Kyrle, S. Eichinger, M. Exner, and C. Mannhalter
Multiplexed Mutagenically Separated PCR: Simultaneous Single-Tube Detection of the Factor V R506Q (G1691A), the Prothrombin G20210A, and the Methylenetetrahydrofolate Reductase A223V (C677T) Variants
Clin. Chem., February 1, 2001; 47(2): 333 - 335.
[Full Text] [PDF]

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 Clin. Chem.Home page
S. Hustad, P. M. Ueland, S. E. Vollset, Y. Zhang, A. L. Bjorke-Monsen, and J. Schneede
Riboflavin as a Determinant of Plasma Total Homocysteine: Effect Modification by the Methylenetetrahydrofolate Reductase C677T Polymorphism
Clin. Chem., August 1, 2000; 46(8): 1065 - 1071.
[Abstract] [Full Text] [PDF]

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 J. Nutr.Home page
L. B. Bailey and J. F. Gregory III
Polymorphisms of Methylenetetrahydrofolate Reductase and Other Enzymes: Metabolic Significance, Risks and Impact on Folate Requirement
J. Nutr., May 1, 1999; 129(5): 919 - 922.
[Abstract] [Full Text]


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