Accurate and rapid 'multiplex heteroduplexing' method for genotyping key enzymes involved in folate/homocysteine metabolism

Clinical Chemistry

Volumn 46, Issue 7, 2000, Pages 907-912

  Barbaux, Sandrine ^a,b   Kluijtmans, Leo A J ^a   Whitehead, Alexander S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTATHIONINE BETA SYNTHASE; HETERODUPLEX; HOMOCYSTEINE;

ANALYTIC METHOD; ARTICLE; ENZYME ANALYSIS; FOLATE METABOLISM; GENE AMPLIFICATION; GENETIC POLYMORPHISM; GENOTYPE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE;

EID: 0033927120     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/46.7.907     Document Type: Article

References (26)

1. 1. Refsum H, Ueland PM, Nygård O, Vollset SE. Homocysteine and cardiovascular disease. Annu Rev Med 1998;49:31-62.
2. 2. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes. JAMA 1995;274:1049-57.
3. 3. Steegers-Theunissen RPM, Boers GHJ, Trijbels JMF, Finkelstein JD, Blom HJ, Thomas CM, et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994;43:1475-80.
4. 4. Mahmud N, Molloy AM, McPartlin JM, Corbally R, Whitehead AS, Scott JM, Weir DG. Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications. Gut 1999;45:389-94.
5. 12, and serum total homocysteine levels in confirmed Alzheimer disease. Arch Neurol 1998;55:1449-55.
6. 6. Selhub J, Jacques PF, Wilson PWF, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA 1993;270:2693-8.
7. 7. Daly L, Robinson K, Tan KS, Graham IM. Hyperhomocysteinemia: a metabolic risk factor for coronary heart disease determined by both genetic and environmental influences? Q J Med 1993;86: 685-9.
8. 8. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
9. 9. Harmon DL, Woodside JV, Yarnell JWG, McMaster D, Young IS, McCrum EE, et al. The common 'thermolabile' variant of methylenetetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia. Q J Med 1996;89:571-7.
10. 10. Kluijtmans LAJ, Van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EM, van Oost BA, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996;58:35-41.
11. 11. Gallagher PM, Meleady R, Shields DC, Tan KS, McMaster D, Rozen R, et al. Homocysteine and risk of premature coronary heart disease: evidence for a common gene mutation. Circulation 1996;94:2154-8.
12. 12. Morita H, Taguchi J, Kurihara H, Kitaoka M, Kaneda H, Kurihara Y, et al. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation 1997;95:2032-6.
13. 13. Fletcher O, Kessling AM. MTHFR association with arteriosclerotic vascular disease? Hum Genet 1998;103:11-21.
14. 14. van der Put NMJ, Gabreels FJM, Stevens EMB, Smeitink JA, Trijbels FJ, Eskes TK, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-51.
15. 15. Leclerc D, Campeau E, Goyette P, Adjalla CE, Christensen B, Ross M, et al. Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum Mol Genet 1996;5:1867-74.
16. 16. Tsai MY, Yang F, Bignell M, Aras O, Hanson NQ. Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionine β-synthase gene, and pyridoxal-5′-phosphate concentration. Mol Genet Metab 1999;67:352-6.
17. 17. Harmon DL, Shields DC, Woodside JV, McMaster D, Yarnell JW, Young IS, et al. The methionine synthase D919G polymorphism is a significant determinant of circulating homocysteine concentrations. Genet Epidemiol 1999;17:298-309.
18. 18. Meyer M, Kutscher G, Vogel G. Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by multiplex PCR-SSCP assay on whole blood. Thromb Haemost 1999;81:162-3.
19. 19. Bidwell J, Wood N, Clay T, Pursall M, Culpan D, Evans J, et al. DNA heteroduplex technology. Adv Electrophor 1994;7:311-51.
20. 20. Clark ZE, Bowen DJ, Whatley SD, Bellamy MF, Collins PW, McDowell IFW. Genotyping method for methylenetetrahydrofolate reductase (C677T thermolabile variant) using heteroduplex technology. Clin Chem 1998;44:2360-2.
21. 21. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
22. 22. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998;64:169-72.
23. 23. Tyagi S, Kramer FR. Molecular beacons: probes that fluoresce upon hybridization. Nat Biotechnol 1996;14:303-8.
24. 24. Manganelli R, Dubnau E, Tyagi S, Kramer FR, Smith I. Differential expression of 10 sigma factor genes in Mycobacterium tuberculosis. Mol Microbiol 1999;31:715-24.
25. 25. Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet 1994;7:195-200.
26. 26. Kraus JP, Le K, Swaroop M, Ohura T, Tahara T, Rosenberg LE, et al. Human cystathionine β-synthase cDNA: sequence, alternative splicing and expression in cultured cells. Hum Mol Genet 1993; 2:1633-8.