Evaluation of electronic microarrays for genotyping factor V, factor II, and MTHFR

Clinical Chemistry

Volumn 49, Issue 5, 2003, Pages 732-739

  Erali, Maria ^a   Schmidt, Ben ^a   Lyon, Elaine ^a,b   Wittwer, Carl ^a,b  

^a ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; PROTHROMBIN;

ALLELE; ARTICLE; DIAGNOSTIC ACCURACY; DNA MICROARRAY; ELECTRONICS; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENOTYPE; HETEROZYGOSITY; HUMAN; INTERMETHOD COMPARISON; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; REPORTER GENE; REPRODUCIBILITY; RISK ASSESSMENT; SEQUENCE ANALYSIS; SIGNAL PROCESSING; VEIN THROMBOSIS;

ELECTRONICS; FACTOR V; GENOTYPE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; POLYMERASE CHAIN REACTION; PROTHROMBIN;

EID: 0037406453     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/49.5.732     Document Type: Article

References (20)

1. Bertina RM. Factor V Leiden and other coagulation factor mutations affecting thrombotic risk. Clin Chem 1997;43:1678-83.
2. DeStefano V, Martinelli I, Mannucci PM, Paciaroni K, Chiusolo P, Casorelli I, et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med 1999;341:801-6.
3. Doggen CJ, Cats VM, Bertina RM, Rosendaal FR. Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation 1998;97:1037-41.
4. Deloughery TG, Evans A, Sadeghi A, McWilliams J, Henner WD, Taylor LM, et al. Common mutation in methylenetetrahydrofolate reductase: correlation with homocysteine metabolism and late-onset vascular disease. Circulation 1996;94:3074-8.
5. Pecheniuk NM, Walsh TP, Marsh NA. DNA technology for the detection of common genetic variants that predispose to thrombophilia. Blood Coagul Fibrinolysis 2000;11:683-700.
6. Ryan D, Nuccie B, Aryan D. Non-PCR-dependent detection of the factor V Leiden mutation from genomic DNA using a homogeneous invader microtiter plate assay. Mol Diagn 1999;4:135-44.
7. Ledford M, Friedman KD, Hessner MJ, Moehlenkamp C, Williams TM, Larson RS. A multi-site study for detection of the factor V (Leiden) mutation from genomic DNA using a homogeneous Invader microtiter plate fluorescence resonance energy transfer (FRET) assay. J Mol Diagn 2000;2:97-104.
8. Huber S, McMaster KJ, Voelkerding KV. Analytical evaluation of primer engineered multiplex polymerase chain reaction-restriction fragment length polymorphism for detection of factor V Leiden and prothrombin G20210A. J Mol Diagn 2000;2:153-7.
9. Lay MJ, Wittwer CT. Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem 1997;43:2262-7.
10. Pollak ES, Feng L, Ahadian H, Fortina P. Microarray-based genetic analyses for studying susceptibility to arterial and venous thromboric disorders. Ital Heart J 2001;2:568-72.
11. von Ahsen N, Schutz E, Armstrong VW, Oellerich M. Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time PCR with the LightCycler. Clin Chem 1999;45:694-6.
12. Bernard PS, Lay MJ, Wittwer CT. Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves. Anal Biochem 1998;255:101-7.
13. Nanogen. NanoChip® Factor V (Leiden)/Prothrombin research application note. Document no. 140098.2. San Diego, CA: Nanogen, Inc., 2001.
14. Nanogen. NanoChip® MTHFR research application note. Document no. 140092.1. San Diego, CA: Nanogen, Inc., 2001.
15. Sosnowski RG, Tu E, Butler WF, O'Connell JP, Heller MJ. Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control. Proc Natl Acad Sci U S A 1997;94:1119-23.
16. Tsongalis GJ, Rainey BJ, Hodges KA. READIT: a novel technology used in the interrogation of nucleic acid sequences for single-nucleotide polymorphisms. Exp Mol Pathol 2001;71:222-5.
17. Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, et al. Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. Clin Chem 2002;48:2124-30.
18. Teupser D, Rupprecht W, Lohse P, Thiery J. Fluorescence-based detection of the CETP TaqlB polymorphism: false positives with the TaqMan-based exonuclease assay attributable to a previously unknown gene variant. Clin Chem 2001;47:852-7.
19. Lyon E, Millson A, Phan T, Wittwer C. Detection and identification of base alterations within the region of factor V Leiden by fluorescent melting curves. Mol Diagn 1998;3:203-10.
20. Evans JG, Lee-Tataseo C. Determination of the factor V Leiden single-nucleotide polymorphism in a commercial clinical laboratory by use of NanoChip microelectronic array technology. Clin Chem 2002;48:1406-11.