Investigating the utility of combining Φ29 whole genome amplification and highly multiplexed single nucleotide polymorphism BeadArray™ genotyping
作者： Rebecca Pask , Helen E Rance , Bryan J Barratt , Sarah Nutland , Deborah J Smyth
关键词: genomic DNA 、 Genotyping 、 SNP genotyping 、 Human genome 、 Nucleic acid amplification technique 、 Whole Genome Amplification 、 Genetics 、 Molecular Inversion Probe 、 Multiple displacement amplification 、 Biology
摘要: Sustainable DNA resources and reliable high-throughput genotyping methods are required for large-scale, long-term genetic association studies. In the dissection of common disease it is now recognised that thousands samples hundreds markers, mostly single nucleotide polymorphisms (SNPs), will have to be analysed. order achieve these aims, both an ability boost quantities archived genotype at low costs highly desirable. We investigated Φ29 polymerase Multiple Displacement Amplification (MDA)-generated product (MDA product), in combination with multiplexed BeadArray™ technology. As part a large-scale BeadArray experiment we made direct comparison data generated from MDA genomic (gDNA) templates. Eighty-six corresponding 86 gDNA were genotyped 345 SNPs concordance rate 98.8% was achieved. The sample exclusion rate, blind type, 10.5% compared 5.8% gDNA. conclude technology successfully produces high quality product. technologies improves feasibility efficiency mapping susceptibility genes despite limited stocks samples.
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Arnold Oliphant, David L. Barker, John R. Stuelpnagel, Mark S. Chee, BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. BioTechniques. ,vol. 32, pp. 56- ,(2002) , 10.2144/JUN0207
Hironori Ueda, Joanna MM Howson, Laura Esposito, Joanne Heward, Snook, Giselle Chamberlain, Daniel B Rainbow, Kara MD Hunter, Annabel N Smith, Gianfranco Di Genova, Mathias H Herr, Ingrid Dahlman, Felicity Payne, Deborah Smyth, Christopher Lowe, Rebecca CJ Twells, Sarah Howlett, Barry Healy, Sarah Nutland, Helen E Rance, Vin Everett, Luc J Smink, Alex C Lam, Heather J Cordell, Neil M Walker, Cristina Bordin, John Hulme, Costantino Motzo, Francesco Cucca, J Fred Hess, Michael L Metzker, Jane Rogers, Simon Gregory, Amit Allahabadia, Ratnasingam Nithiyananthan, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Polly Bingley, Kathleen M Gillespie, Dag E Undlien, Kjersti S Rønningen, Cristian Guja, Constantin Ionescu-Tîrgovişte, David A Savage, A Peter Maxwell, Dennis J Carson, Chris C Patterson, Jayne A Franklyn, David G Clayton, Laurence B Peterson, Linda S Wicker, John A Todd, Stephen CL Gough, None, Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease Nature. ,vol. 423, pp. 506- 511 ,(2003) , 10.1038/NATURE01621
Gillian C.L. Johnson, Laura Esposito, Bryan J. Barratt, Annabel N. Smith, Joanne Heward, Gianfranco Di Genova, Hironori Ueda, Heather J. Cordell, Iain A. Eaves, Frank Dudbridge, Rebecca C.J. Twells, Felicity Payne, Wil Hughes, Sarah Nutland, Helen Stevens, Phillipa Carr, Eva Tuomilehto-Wolf, Jaakko Tuomilehto, Stephen C.L. Gough, David G. Clayton, John A. Todd, Haplotype tagging for the identification of common disease genes Nature Genetics. ,vol. 29, pp. 233- 237 ,(2001) , 10.1038/NG1001-233
Roger S. Lasken, Michael Egholm, Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens Trends in Biotechnology. ,vol. 21, pp. 531- 535 ,(2003) , 10.1016/J.TIBTECH.2003.09.010
Patricia McKinney, Julian P. Shield, William Wang, Heather J. Cordell, Neil Walker, John A. Todd, Patrick Concannon, Ingrid Dahlman, Iain A. Eaves, Roman Kosoy, V. Anne Morrison, Joanne Heward, Stephen C.L. Gough, Amit Allahabadia, Jayne A. Franklyn, Jaakko Tuomilehto, Eva Tuomilehto-Wolf, Francesco Cucca, Cristian Guja, Constantin Ionescu-Tirgoviste, Helen Stevens, Philippa Carr, Sarah Nutland, Parameters for reliable results in genetic association studies in common disease. Nature Genetics. ,vol. 30, pp. 149- 150 ,(2002) , 10.1038/NG825
Oliver S Burren, Barry C Healy, Alex C Lam, Helen Schuilenburg, Geoffrey E Dolman, Vincent H Everett, Davide Laneri, Sarah Nutland, Helen E Rance, Felicity Payne, Deborah Smyth, Chris Lowe, Bryan J Barratt, Rebecca CJ Twells, Daniel B Rainbow, Linda S Wicker, John A Todd, Neil M Walker, Luc J Smink, Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics. Human Genomics. ,vol. 1, pp. 98- 109 ,(2004) , 10.1186/1479-7364-1-2-98
N. Risch, K. Merikangas, The Future of Genetic Studies of Complex Human Diseases Science. ,vol. 273, pp. 1516- 1517 ,(1996) , 10.1126/SCIENCE.273.5281.1516
Jeffrey R. O'Connell, Daniel E. Weeks, PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis American Journal of Human Genetics. ,vol. 63, pp. 259- 266 ,(1998) , 10.1086/301904
Seiyu Hosono, A Fawad Faruqi, Frank B Dean, Yuefen Du, Zhenyu Sun, Xiaohong Wu, Jing Du, Stephen F Kingsmore, Michael Egholm, Roger S Lasken, None, Unbiased Whole-Genome Amplification Directly From Clinical Samples Genome Research. ,vol. 13, pp. 954- 964 ,(2003) , 10.1101/GR.816903
D. L. Barker, Two Methods of Whole-Genome Amplification Enable Accurate Genotyping Across a 2320-SNP Linkage Panel Genome Research. ,vol. 14, pp. 901- 907 ,(2004) , 10.1101/GR.1949704