Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction

Journal of Immunological Methods

Volumn 309, Issue 1-2, 2006, Pages 108-114

  Roos, Anja ^a   Dieltjes, Patrick ^a   Vossen, Rolf H A M ^a   Daha, Mohamed R ^a   De Knijff, Peter ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Complement deficiency; Innate immunity; Lectin pathway; Mannose binding lectin; Pyrosequencing; Single nucleotide polymorphism

Indexed keywords

MANNOSE BINDING LECTIN;

ALLELE; ARTICLE; EXON; GENOTYPE; HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; DNA; EXONS; GENOTYPE; HUMANS; MANNOSE-BINDING LECTIN; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 31944445006     PISSN: 00221759     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jim.2005.11.017     Document Type: Article

References (32)

1. T. Bernig, J.G. Taylor, C.B. Foster, B. Staats, M. Yeager, and S.J. Chanock Sequence analysis of the mannose-binding lectin (MBL2) gene reveals a high degree of heterozygosity with evidence of selection Genes Immun. 5 2004 461
2. A.B. Boldt, and M.L. Petzl-Erler A new strategy for mannose-binding lectin gene haplotyping Hum. Mutat. 19 2002 296
3. L.H. Bouwman, A. Roos, O.T. Terpstra, P. De Knijff, B. van Hoek, H.W. Verspaget, S.P. Berger, M.R. Daha, M. Frölig, A.R. van der Slik, I.I. Doxiadis, B.O. Roep, and A.F.M. Schaapherder Mannose binding lectin gene polymorphisms confer a major risk for severe infections after liver transplantation Gastroenterology 129 2005 408
4. D.J. Crosdale, W.E.R. Ollier, W. Thomson, P.A. Dyer, J. Jensenius, R.W.G. Johnson, and K.V. Poulton Mannose binding lectin (MBL) genotype distributions with relation to serum levels in UK Caucasoids Eur. J. Immunogenet. 27 2000 111
5. D.P. Eisen, and R.M. Minchinton Impact of mannose-binding lectin on susceptibility to infectious diseases Clin. Infect. Dis. 37 2003 1496
6. M. Gabolde, S. Muralitharan, and C. Besmond Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis Hum. Mutat. 14 1999 80
7. P. Garred, H.O. Madsen, and A. Svejgaard Genetics of human mannan-binding protein R.A.B. Ezekowitz K.N. Sastry K.B.M. Reid Collectins and Innate Immunity 1996 Springer-Verlag Heidelberg 139
8. P. Garred, F. Larsen, H.O. Madsen, and C. Koch Mannose-binding lectin deficiency- revisited Mol. Immunol. 40 2003 73
9. P. Garred, J.J. Strøm, L. Quist, E. Taaning, and H.O. Madsen Association of mannose-binding lectin polymorphisms with sepsis and fatal outcome, in patients with systemic inflammatory response syndrome J. Infect. Dis. 188 2003 1394
10. D. Jack, J. Bidwell, M. Turner, and N. Wood Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene Hum. Mutat. 9 1997 41
11. F. Larsen, H.O. Madsen, R.B. Sim, C. Koch, and P. Garred Disease-associated mutations in human mannose-binding lectin compromise oligomerisation and activity of the final protein J. Biol. Chem. 279 2004 21302
12. R.J. Lipscombe, M. Sumiya, A.V. Hill, Y.L. Lau, R.J. Levinsky, J.A. Summerfield, and M.W. Turner High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene Hum. Mol. Genet. 1 1992 709
13. H.O. Madsen, P. Garred, J.A.L. Kurtzhals, L.U. Lamm, L.P. Ryder, S. Thiel, and A. Svejgaard A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein Immunogenetics 40 1994 37
14. H.O. Madsen, P. Garred, S. Thiel, J.A. Kurtzhals, L.U. Lamm, L.P. Ryder, and A. Svejgaard Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein J. Immunol. 155 1995 3013
15. H.O. Madsen, M.L. Satz, B. Hogh, A. Svejgaard, and P. Garred Different molecular events result in low protein levels of mannan-binding lectin in populations from southeast Africa and South America J. Immunol. 161 1998 3169
16. R.M. Minchinton, M.M. Dean, T.R. Clark, S. Heatley, and C.G. Mullighan Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population Scand. J. Immunol. 56 2002 630
17. C.G. Mullighan, S.E. Marshall, and K.I. Welsh Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency Scand. J. Immunol. 51 2000 111
18. M.G. Neonato, C.Y. Lu, M. Guilloud-Bataille, C. Lapouméroulie, H. Nabeel-Jassim, D. Dabit, R. Girot, R. Krishnamoorthy, J. Feingold, C. Besmond, and J. Elion Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections Eur. J. Hum. Genet. 7 1999 679
19. S.V. Petersen, S. Thiel, L. Jensen, R. Steffensen, and J.C. Jensenius An assay for the mannan-binding lectin pathway of complement activation J. Immunol. Methods 257 2001 107
20. S.V. Petersen, S. Thiel, and J.C. Jensenius The mannan-binding lectin pathway of complement activation: biology and disease association Mol. Immunol. 38 2001 133
21. M. Ronaghi Pyrosequencing sheds light on DNA sequencing Genome Res. 11 2001 3
22. A. Roos, L.H. Bouwman, J. Munoz, T. Zuiverloon, M.C. Faber-Krol, F.C. Fallaux-van den Houten, N. Klar-Mohamad, C.E. Hack, M.G. Tilanus, and M.R. Daha Functional characterization of the lectin pathway of complement in human serum Mol. Immunol. 39 2003 655
23. A. Roos, L.A. Trouw, A. Ioan-Facsinay, M.R. Daha, and J.S. Verbeek Complement system and Fc receptors: genetics D. Cooper Nature Encyclopedia of the Human Genome 2003 Nature Publishing Group London 914
24. A. Roos, P. Garred, M.E. Wildenberg, N.J. Lynch, J. Munoz, T. Zuiverloon, L.H. Bouwman, N. Schlagwein, F.C. Fallaux-van den Houten, M.C. Faber-Krol, H.O. Madsen, W.J. Schwaeble, M. Matsushita, T. Fujita, and M.R. Daha Antibody-mediated activation of the classical pathway of complement may compensate for mannose-binding lectin deficiency Eur. J. Immunol. 34 2004 2589
25. H. Skalníková, T. Freiberger, J. Chumchalová, H. Grombiríková, and A. Sedivá Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR J. Immunol. Methods 295 2004 139
26. R. Steffensen, S. Thiel, K. Varming, C. Jersild, and J.C. Jensenius Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers J. Immunol. Methods 241 2000 33
27. R. Steffensen, K. Hoffmann, and K. Varming Rapid genotyping of MBL2 gene mutations using real-time PCR with fluorescent hybridisation probes J. Immunol. Methods 278 2003 191
28. M. Sumiya, M. Super, P. Tabona, R.J. Levinsky, T. Arai, M.W. Turner, and J.A. Summerfield Molecular basis of opsonic defect in immunodeficient children Lancet 337 1991 1569
29. M. Super, S.D. Gillies, S. Foley, K. Sastry, J.E. Schweinle, V.J. Silverman, and R.A.B. Ezekowitz Distinct and overlapping functions of allelic forms of human mannose binding protein Nat. Genet. 2 1992 50
30. E. Van Hoeyveld, F. Houtmeyers, C. Massonet, L. Moens, M. Van Ranst, N. Blanckaert, and X. Bossuyt Detection of single nucleotide polymorphisms in the mannose-binding lectin gene using minor groove binder-DNA probes J. Immunol. Methods 287 2004 227
31. M.J. Walport Complement. First of two parts N. Engl. J. Med. 344 2001 1058
32. M.J. Walport Complement. Second of two parts N. Engl. J.Med. 344 2001 1140