Four common mutations of the cystathionine β-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Clinical Chemistry

Volumn 45, Issue 8 I, 1999, Pages 1157-1161

  Harksen, Angela ^a   Ueland, Per Magne ^a   Refsum, Helga ^a   Meyer, Klaus ^a  

^a UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE BETA SYNTHASE;

ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HOMOCYSTINURIA; HUMAN; LABORATORY DIAGNOSIS; MASS SPECTROMETRY; POLYMERASE CHAIN REACTION;

EID: 0032831045     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/45.8.1157     Document Type: Article

References (39)

1. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw-Hill, 1995:1279-327.
2. McCully KS. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56: 111-28.
3. Yap S, Naughten E. Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis 1998;21:738-47.
4. Wilcken DE, Wilcken B. The natural history of vascular disease in homocystinuria and the effects of treatment. J Inherit Metab Dis 1997;20:295-300.
5. Kraus JP, Oliveriusova J, Sokolova J, Kraus E, Vlcek C, de Franchis R, et al. The human cystathionine β-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics 1998;52:312-24.
6. Skovby F, Krassikoff N, Francke U. Assignment of the gene for cystathionine β-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet 1984;65:291-4.
7. 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.
8. Kraus JP. Biochemistry and molecular genetics of cystathionine β-synthase deficiency. Eur J Pediatr 1998;157(Suppl 2):50-3.
9. Kim CE, Gallagher PM, Guttormsen AB, Refsum H, Ueland PM, Ose L, et al. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine β-synthase mutation in homocystinuria. Hum Mol Genet 1997;6:2213-22.
10. Karas M, Bachmann D, Bahr U, Hillenkamp F. Matrix-assisted ultraviolet laser desorption of non-volatile compounds. Int J Mass Spectrom Ion Processes 1987;78:53-68.
11. Hillenkamp F, Karas M, Beavis RC, Chait BT. Matrix-assisted laser desorption/ionization mass spectrometry of biopolymers. Anal Chem 1991;63:1193A-203A.
12. Fitzgerald MC, Smith LM. Mass spectrometry of nucleic acids: the promise of matrix-assisted laser desorption-ionization (MALDI) mass spectrometry. Annu Rev Biophys Biomol Struct 1995;24: 117-40.
13. Monforte JA, Becker CH. High-throughput DNA analysis by time-of-flight mass spectrometry. Nat Med 1997;3:360-2.
14. Nordhoff E, Ingendoh A, Cramer R, Overberg A, Stahl B, Karas M, et al. Matrix-assisted laser desorption/ionization mass spectrometry of nucleic acids with wavelengths in the ultraviolet and infrared. Rapid Commun Mass Spectrom 1992;6:771-6.
15. Kussmann M, Nordhoff E, Rahbek-Nielsen H, Haebel S, Rossel-Larsen M, Jakobsen L, et al. MALDI-MS sample preparation techniques designed for various peptide and protein analytes. J Mass Spectrom 1997;32:593-601.
16. Jurinke C, van den Boom D, Collazo V, Luchow A, Jacob A, Köster H. Recovery of nucleic acids from immobilized biotin-streptavidin complexes using ammonium hydroxide and applications in MALDI-TOF mass spectrometry. Anal Chem 1997;69:904-10.
17. Schneider K, Chait BT. Increased stability of nucleic acids containing 7-deaza-guanosine and 7-deaza-adenosine may enable rapid DNA sequencing by matrix-assisted laser desorption mass spectrometry. Nucleic Acids Res 1995;23:1570-5.
18. Kirpekar F, Nordhoff E, Kristiansen K, Roepstorff P, Hahner S, Hillenkamp F. 7-Deaza purine bases offer a higher ion stability in the analysis of DNA by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1995:9: 525-31.
19. Gut IG, Jeffery WA, Pappin DJC, Beck S. Analysis of DNA by "charge tagging" and matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1997;11: 43-50.
20. Wu KJ, Steding A, Becker CH. Matrix-assisted laser desorption time of-flight mass spectrometry of oligonucleotides using 3-hydroxypicoline acid as an ultraviolet-sensitive matrix. Rapid Commun Mass Spectrom 1993;7:142-6.
21. Fitzgerald MC, Parr GR, Smith LM. Basic matrices for the matrix-assisted laser desorption/ionization mass spectrometry of proteins and oligonucleotidos. Anal Chem 1993;65:3204-11.
22. Tang K, Taranenko NI, Allman SL, Chen CH, Chang LY, Jacobson KB. Picolinic acid as a matrix for laser mass spectrometry of nucleic acids and proteins. Rapid Commun Mass Spectrom 1994;8:673-7.
23. Zhu YF, Chung CN, Taranenko NI, Allman SL, Martin SA, Haff L, Chen CH. The study of 2,3,4-trihydroxyacetophenone and 2,4,6-trihydroxyacetophenone as matrices for DNA detection in matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Rapid Commun Mass Spectrom 1996;10:383-8.
24. Cheng SW, Chan TW. Use of ammonium halides as co-matrices for matrix-assisted laser desorption/ionization studies of oligonucleotides. Rapid Commun Mass Spectrom 1996;10:907-10.
25. Juhasz P, Roskey MT, Smirnov IP, Haff LA, Vestal ML, Martin SA. Applications of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry to oligonucleotide analysis. Anal Chem 1996;68:941-6.
26. Berkenkamp S, Kirpekar F, Hillenkamp F. Infrared MALDI mass spectrometry of large nucleic acids. Science 1998;281:260-2.
27. Fu DJ, Tang K, Braun A, Reuter D, Darnhofer-Demar B, Little DP, et al. Sequencing exons 5 to 8 of the p53 gene by MALDI-TOF mass spectrometry. Nat Biotechnol 1998;16:381-4.
28. Kirpekar F, Nordhoff E, Larsen LK, Kristiansen K, Roepstorff P, Hillenkamp F. DNA sequence analysis by MALDI mass spectrometry. Nucleic Acids Res 1998;26:2554-9.
29. Taranenko NI, Matteson KJ, Chung CN, Zhu YF, Chang LY, Allman SL, et al. Laser desorption mass spectrometry for point mutation detection. Genet Anal 1996;13:87-94.
30. Haff LA, Smirnov IP. Single-nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry. Genome Res 1997;7:378-88.
31. Braun A, Little DP, Köster H. Detecting CFTR gene mutations by using primer oligo base extension and mass spectrometry. Clin Chem 1997;43:1151-8.
32. Griffin TJ, Tang W, Smith LM. Genetic analysis by peptide nucleic acid affinity MALDI-TOF mass spectrometry. Nat Biotechnol 1997; 15:1368-72.
33. Ross PL, Lee K, Belgrader P. Discrimination of single-nucleotide polymorphisms in human DNA using peptide nucleic acid probes detected by MALDI-TOF mass spectrometry. Anal Chem 1997;69: 4197-202.
34. Fei Z, Ono T, Smith LM. MALDI-TOF mass spectrometric typing of single nucleotide polymorphisms with mass-tagged ddNTPs, Nucleic Acids Res 1998;26:2827-8.
35. Haff LA, Smirnov IP. Multiplex genotyping of PCR products with MassTag-labeled primers. Nucleic Acids Res 1997;25:3749-50.
36. Ross P, Hall L, Smirnov I, Haff L. High level multiplex genotyping by MALDI-TOF mass spectrometry. Nat Biotechnol 1998;16:1347-51.
37. Doktycz MJ, Hurst GB, Habibi-Goudarzi S, McLuckey SA, Tang K, Chen CH, et al. Analysis of polymerase chain reaction-amplified DNA products by mass spectrometry using matrix-assisted laser desorption and electrospray: current status. Anal Biochem 1995; 230:205-14.
38. Tang K, Fu D, Kotter S, Cotter RJ, Cantor CR, Köster H. Matrix-assisted laser desorption/ionization mass spectrometry of immobilized duplex DNA probes. Nucleic Acids Res 1995;23:3126-31.
39. Girault S, Chassaing G, Blais JC, Brunot A, Bolbach G. Coupling of MALDI-TOF mass analysis to the separation of biotinylated peptides by magnetic streptavidin beads. Anal Chem 1996;68: 2122-6.