Analysis of multiple single nucleotide polymorphisms (SNP) on DNA traces from plasma and dried blood samples

Journal of Immunological Methods

Volumn 321, Issue 1-2, 2007, Pages 135-141

  Catsburg, Arnold ^a   van der Zwet, Wil C ^a,b   Morré, Servaas A ^a,c   Ouburg, Sander ^a   Vandenbroucke Grauls, Christina M J E ^a,d   Savelkoul, Paul H M ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DEVENTER HOSPITAL   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Genotyping; MBL; SNP; Traces of DNA

Indexed keywords

DNA; MANNOSE BINDING LECTIN 2;

ARTICLE; BLOOD; BLOOD ANALYSIS; BLOOD SAMPLING; CAUCASIAN; CONTROLLED STUDY; DNA DETERMINATION; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; HUMAN; NEWBORN; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BLOOD SPECIMEN COLLECTION; DNA; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT, NEWBORN; MANNOSE-BINDING LECTIN; NETHERLANDS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY;

EID: 33947399801     PISSN: 00221759     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jim.2007.01.015     Document Type: Article

References (21)

1. Alderborn A., Kristofferson A., and Hammerling U. Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing. Genome Res. 10 (2000) 1249
2. Boldt A.B., and Petzl-Erler M.L. A new strategy for mannose-binding lectin gene haplotyping. Human Mutat. 19 (2002) 296
3. Cedzynski M., Szemraj J., Swierzko A.S., Bak-Romaniszyn L., Banasik M., Zeman K., and Kilpatrick D.C. Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system. Clin. Exp. Immunol. 136 (2004) 304
4. Dean F.B., Hosono S., Fang L., Wu X., Faruqi A.F., Bray-Ward P., Sun Z., Zong Q., Du Y., Du J., Driscoll M., Song W., Kingsmore S.F., Egholm M., and Lasken R.S. Comprehensive human genome amplification using multiple displacement amplification. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 5261
5. den Dunnen J.T., and Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutat. 15 (2000) 7
6. Griffin T.J., and Smith L.M. Single-nucleotide polymorphism analysis by MALDI-TOF mass spectrometry. Trends Biotechnol. 18 (2000) 77
7. Kilpatrick D.C. Mannan-binding lectin and its role in innate immunity. Transfus. Med. 12 (2002) 335
8. Kwok P.Y. SNP genotyping with fluorescence polarization detection. Human Mutat. 19 (2002) 315
9. Landegren U., Nilsson M., and Kwok P.Y. Reading bits of genetic information: methods for single-nucleotide polymorphism analysis. Genome Res. 8 (1998) 769
10. Livak K.J. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet. Anal. 14 (1999) 143
11. Madsen H.O., Garred P., Thiel S., Kurtzhals J.A., Lamm L.U., Ryder L.P., and Svejgaard A. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J. Immunol. 155 (1995) 3013
12. Madsen H.O., Satz M.L., Hogh B., Svejgaard A., and Garred P. 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
13. Mattarucchi E., Marsoni M., Binelli G., Passi A., Lo Curto F., Pasquali F., and Porta G. Different real time PCR approaches for the fine quantification of SNP's alleles in DNA pools: Assays development, characterization and pre-validation. J. Biochem. Mol. Bio. 38 (2005) 555
14. Minchinton R.M., Dean M.M., Clark T.R., Heatley S., and Mullighan C.G. 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
15. Mohammadi T., Reesink H.W., Vandenbroucke-Grauls C.M., and Savelkoul P.H. Real-time amplification of HLA-DQA1 for counting residual white blood cells in filtered platelet concentrates. Transfusion. 44 (2004) 1314
16. Mullighan C.G., Marshall S.E., and Welsh K.I. Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency. Scand. J. Immunol. 51 (2000) 111
17. Skalnikova H., Freiberger T., Chumchalova J., Grombirikova H., and Sediva A. Cost-effective genotyping of human MBL2 gene mutations using multiplex PCR. J. Immunol. Methods. 295 (2004) 139
18. Steffensen R., Thiel S., Varming K., Jersild C., and Jensenius J.C. 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
19. Twyman R.M. SNP discovery and typing technologies for pharmacogenomics. Curr. Top. Med. Chem. 4 (2004) 1423
20. Villarreal J., Crosdale D., Ollier W., Hajeer A., Thomson W., Ordi J., Balada E., Villardell M., Teh L.S., and Poulton K. Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients. Rheumatology (Oxford) 40 (2001) 1009
21. Zhou X., Rao N.P., Cole S.W., Mok S.C., Chen Z., and Wong D.T. Progress in concurrent analysis of loss of heterozygosity and comparative genomic hybridization utilizing high density single nucleotide polymorphism arrays. Cancer Genet. Cytogenet. 159 (2005) 53