Identification of Apolipoprotein E Polymorphisms Using Temperature Cycled Primer Oligo Base Extension and Mass Spectrometry

Clinical Chemistry and Laboratory Medicine

Volumn 35, Issue 7, 1997, Pages 545-548

  Little, Daniel P ^a   Braun, Andreas ^a   Darnhofer Demar, Brigitte ^a   Köster, Hubert ^b  

^a Sequenom GmbH   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; OLIGONUCLEOTIDE;

ARTICLE; AUTOMATION; CODON; DESORPTION; DNA POLYMORPHISM; HUMAN; HUMAN CELL; IONIZATION; MASS SPECTROMETRY; PRIORITY JOURNAL; TEMPERATURE;

APOLIPOPROTEINS E; BASE SEQUENCE; CODON; DNA PRIMERS; EVALUATION STUDIES; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; TEMPERATURE;

EID: 0030753972     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm.1997.35.7.545     Document Type: Article

References (34)

1. Utermann G, Hees M, Steinmetz A. Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinemia in man. Nature 1977: 269: 604-607.
2. Utermann G, Langenbeck U, Beisiegel U, Weber W. Genetics of the apolipoprotein E system in man. Am J Hum Genet 1981: 32: 339-347.
3. Weisgraber KH, Rail SC, Mahley RW. Human apolipoprotein E heterogeneity: cys-arg interchanges in the amino acid sequence of the apo-E isoforms. J Biol Chem 1981: 256: 9077-83.
4. Breslow JL, Zannis VI, SanGiacomo TR, Third JLHC, Tracy T, Glueck CJ. Studies of familial type III hyperlipoproteinemia using a genetic marker the apoE phenotype E2/2. J Lipid Res 1982: 23: 1224-35.
5. Davignon J, Gregg RE, Sing CF. Apolipoprotein E polymorphism and atherosclerosis. Ateriosclerosis 1988: 8: 1-21.
6. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small G, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993: 261: 921-923.
7. Siest G, Pillot T, Regis-Bailly A, Leininger-Muller B, Steinmetz J, Galteau M-M, Visvikis S. Apolipoprotein E: an important gene and protein to follow in laboratory medicine. Clin Chem 1995: 41: 1068-86.
8. Wenham PR, Sedky A, Spooner RJ. Apolipoprotein E phenotyping: a word of caution. Ann Clin Biochem 1991: 28: 599-605.
9. Weisgraber KH, Newhouse YM, Mahley RW. Apolipoprotein E genotyping using the polymerase chain reaction and allelespecific oligonucleotide probes. Biochem Biophys Res Commun 1988: 157: 1212-7.
10. Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal. J Lipid Res 1990: 31: 545-548.
11. Bolla MK: Haddad L, Humphries SE, Winder AF, Day INM. High-throughput method for determination of apolipoprotein E genotypes with the use of restriction digestion analysis by microplate array diagonal gel electrophoresis. Clin Chem 1995: 41: 1599-604.
12. Wenham PR, Newton CR, Price WH. Analysis of apolipoprotein E genotypes by the amplification refractory mutation system. Clin Chem 1991: 37: 241-244.
13. Aozaki R, Kawaguchi R, Ogasa U, Hikiji K, Kubo N, Sokurabayashi I. Rapid identification of the common apo E isoform genotype using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). Mol Cell Probes 1994: 8: 51-54.
14. Dallinga-Thie GM, van Linde-Sibenius Trip M, Kock LAW, Bruin TWA. Apolipoprotein E2/E3/E4 genotyping with agarose gels. Clin Chem 1995: 41: 73-75.
15. Karas M, Hillenkamp F. Laser desorption ionization of proteins with molecular masses exceeding 10000 Daltons. Anal Chem 1988: 60: 2299-301.
16. Fenn JB, Mann M, Meng CK, Wong SF, Whitehouse CM. Electrospray ionization-principles and practice. Mass Spec Rev 1990: 9: 37-70.
17. Tang K, Allman SL, Chen CH, Ch'ang L-Y, Schell M. MALDI of restriction enzyme-digested DNA. Rapid Commun Mass Spectrom 1994: 8: 183-186.
18. Liu Y-H, Bai J, Zhu Y, Liang X, Siemieniak D, Venta PJ, Lubman DM. Rapid screening of genetic polymorphisms using buccal cell DNA with detection by MALDI MS. Rapid Commun Mass Spectrom 1995: 9: 735-743.
19. Ch'ang L-Y, Tang K, Schell M, Ringelberg C, Matteson KJ, Allman SL, Chen CH. Detection of the äF508 mutation of the cystic fibrosis gene by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom 1995: 9: 772-774.
20. Doktycz MJ, Hurst GB, Habibi-Goudarzi S, McLuckey SA, Tang K, Chen CH, et al. Analysis of polymerase chain reaction-amplified DNA products using matrix-assisted laser desorption and electrospray: current status. Anal Biochem 1995: 230: 205-214.
21. Little DP, Aaserud DJ, Valaskovic GA, McLafferty FW. Sequence information from 42-108 mer DNAs (complete for a 50-mer) by tandem mass spectrometry. J Am Chem Soc 1996: 118: 9352-9.
22. Little DP, Thannhauser TW, McLafferty FW. Verification of 50-to 100-mer DNA and RNA sequences with high-resolution mass spectrometry. Proc Natl Acad Sei USA 1995: 92: 2318-22.
23. Muddiman DC, Bruce JE, Pasa-Tolic L, Hopkins C, Gesteland R, Smith RD. Analysis of DNA mixtures by electrospray ionization mass spectrometry utilizing chargestate reduction. Proceedings of the 44th ASMS Conference on Mass Spectrometry and Allied Topics, Portland, Oregon, May 12-16, 1996.
24. Li Y, Tang K, Little DP, Köster H, Hunter RL, Mclver RT Jr. High-resolution MALDI Fourier transform mass spectrometry of oligonucleotides. Anal Chem 1996: 68: 2090-6.
25. 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.
26. Little DP, Chorush RA, Speir JP, Senko MW, Kelleher NL, McLafferty FW. Rapid sequencing of oligonucleotides by high-resolution mass spectrometry. J Am Chem Soc 1994: 116: 4893-7.
27. Braun A, Little DP, Köster H. Detecting CFTR gene mutations using primer oligo base extension and mass spectrometry. Clin Chem. In press.
28. Braun A, Bichlmaier R, Cleve H. Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic Gc types. Hum Genet 1992: 89: 401-406.
29. Das HK, McPherson J, Bruns GAP, Karathanasis SK, Breslow JL. Isolation, characteirzation, and mapping to chromosome 19 of the human apolipoprotein E gene. J Biol Chem 1985: 260: 6240-7.
30. Stults JT, Marsters JC. Improved electrospray ionization of synthetic oligonucleotides. Rapid Commun Mass Spectrom 1991: 5: 359-363.
31. Wu KJ, Steding A, Becker CH. MALDI-TOF MS of oligonucleotides using 3-hydroxypicolinic acid as an ultravioletsensitive matrix. Rapid Commun Mass Spectrom 1993: 7: 142-146.
32. 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 MALDI-MS. Rapid Commun Mass Spectrom 1995: 9: 525-531.
33. Little DP, Braun A, Darnhofer-Demar B, Frilling A, Li Y, Mclver RT Jr, Köster H. Detection of RET proto-oncogene codon 634 mutations using mass spectrometry. J Mol Med. In press.
34. Chait BT, Kent SBH. Weighing naked proteins: practical, high accuracy mass measurement of peptides and proteins. Science 1992: 257: 1885-94.